ClinVar Miner

List of variants reported as pathogenic by Genetics and Molecular Pathology, SA Pathology

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 679
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_016233.2(PADI3):c.335T>A (p.Leu112His) rs142129409 0.00502
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00099
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329 0.00089
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_194318.4(B3GLCT):c.660+1G>A rs80338851 0.00083
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_002772.3(TMPRSS15):c.2135C>G (p.Ser712Ter) rs77200626 0.00064
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171 0.00037
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His) rs113994049 0.00027
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962 0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs) rs72549380 0.00024
NM_000369.5(TSHR):c.1349G>A (p.Arg450His) rs189261858 0.00023
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg) rs28937879 0.00022
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter) rs142859678 0.00019
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000558.5(HBA1):c.96-1G>A rs34883113 0.00017
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00014
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186 0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) rs121908177 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926 0.00009
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His) rs56010818 0.00008
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646 0.00008
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu) rs148038173 0.00008
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala) rs121918002 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728 0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter) rs141263564 0.00006
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs) rs80359505 0.00004
NM_000133.4(F9):c.316G>A (p.Gly106Ser) rs137852233 0.00004
NM_000237.3(LPL):c.272G>A (p.Trp91Ter) rs118204070 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000517.6(HBA2):c.143del (p.Asp48fs) rs281864539 0.00004
NM_001005242.3(PKP2):c.2357+1G>A rs111517471 0.00004
NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter) rs374340059 0.00004
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00004
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter) rs199422185 0.00004
NM_022436.3(ABCG5):c.751C>T (p.Gln251Ter) rs140111105 0.00004
NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro) rs28940285 0.00004
NM_054012.4(ASS1):c.352G>A (p.Ala118Thr) rs775305020 0.00004
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs) rs80359395 0.00003
NM_000358.3(TGFBI):c.371G>A (p.Arg124His) rs121909211 0.00003
NM_000387.6(SLC25A20):c.199-10T>G rs541208710 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln) rs201951824 0.00003
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) rs201266016 0.00003
NM_021615.5(CHST6):c.304T>G (p.Cys102Gly) rs121917822 0.00003
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg) rs755961411 0.00002
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000195.5(HPS1):c.1857+2T>C rs374689398 0.00002
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587 0.00002
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025 0.00002
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter) rs145961131 0.00002
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) rs747076316 0.00002
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter) rs397517979 0.00002
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter) rs765476745 0.00002
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000059.4(BRCA2):c.7757G>A (p.Trp2586Ter) rs80359003 0.00001
NM_000059.4(BRCA2):c.8575del (p.Gln2859fs) rs80359718 0.00001
NM_000132.4(F8):c.1649G>A (p.Arg550His) rs137852418 0.00001
NM_000132.4(F8):c.1834C>T (p.Arg612Cys) rs137852428 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000143.4(FH):c.301C>T (p.Arg101Ter) rs121913120 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999 0.00001
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000317.3(PTS):c.286G>A (p.Asp96Asn) rs104894280 0.00001
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) rs45546039 0.00001
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys) rs61751398 0.00001
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys) rs121909210 0.00001
NM_000388.4(CASR):c.1630C>T (p.Arg544Ter) rs886041637 0.00001
NM_000394.4(CRYAA):c.62G>A (p.Arg21Gln) rs397515626 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter) rs377160065 0.00001
NM_000478.6(ALPL):c.331G>A (p.Ala111Thr) rs773257111 0.00001
NM_000488.4(SERPINC1):c.655A>G (p.Asn219Asp) rs121909571 0.00001
NM_000494.4(COL17A1):c.3156C>T (p.Gly1052=) rs760714959 0.00001
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg) rs398123438 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) rs118192168 0.00001
NM_000552.5(VWF):c.100C>T (p.Arg34Ter) rs61753984 0.00001
NM_000552.5(VWF):c.3970G>A (p.Gly1324Ser) rs61749398 0.00001
NM_000552.5(VWF):c.5335C>T (p.Arg1779Ter) rs61750606 0.00001
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter) rs61750612 0.00001
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter) rs374328858 0.00001
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs) rs1490309743 0.00001
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038 0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) rs80338855 0.00001
NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter) rs886040888 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_005208.5(CRYBA1):c.215+1G>A rs1264025914 0.00001
NM_006767.4(LZTR1):c.1785+1G>A rs145594158 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.514del (p.Gln172fs) rs80357872 0.00001
NM_015040.4(PIKFYVE):c.2344C>T (p.Arg782Ter) rs992128517 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_018075.5(ANO10):c.1219-1G>T rs1318561721 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_021870.2(FGG):c.902G>A (p.Arg301His) rs121913088 0.00001
NM_021871.4(FGA):c.104G>A (p.Arg35His) rs121909607 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.229del (p.Cys77fs) rs180177084 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser) rs770944877 0.00001
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter) rs587782528 0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) rs121909715 0.00001
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter) rs1553299079 0.00001
GRCh37/hg19 4q25(chr4:111528916-111888401)x1
GRCh37/hg19 6p25.3(chr6:951385-1832936)x3
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0
GRCh37/hg19 Xp22.31(chrX:6575924-8173248)x0
NC_000004.12:g.(?_110618049)_(110622472_?)del
NC_000006.12:g.(?_1610445)_(1612107_?)del
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) rs137854573
NM_000044.6(AR):c.2505C>G (p.Tyr835Ter) rs2147537887
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.2483del (p.Lys828fs) rs1064794234
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000059.4(BRCA2):c.1362del (p.Lys454fs) rs80359282
NM_000059.4(BRCA2):c.1586_1587del (p.Asn528_Phe529insTer) rs1017181748
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1929del (p.Arg645fs) rs80359316
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs) rs80359328
NM_000059.4(BRCA2):c.3679_3683del (p.Leu1227fs) rs1555283355
NM_000059.4(BRCA2):c.4154C>G (p.Ser1385Ter) rs886038101
NM_000059.4(BRCA2):c.4409_4410del (p.Ile1470fs) rs80359446
NM_000059.4(BRCA2):c.4449del (p.Asp1484fs) rs80359448
NM_000059.4(BRCA2):c.475G>A (p.Val159Met) rs80358702
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.67+1G>C rs81002796
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs) rs397507907
NM_000059.4(BRCA2):c.7762del (p.Ile2588fs) rs80359679
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8485C>T (p.Gln2829Ter) rs80359099
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000064.4(C3):c.481C>T (p.Arg161Trp) rs776423109
NM_000071.3(CBS):c.19dup (p.Gln7fs) rs748695461
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser) rs199907548
NM_000080.4(CHRNE):c.1072_1091del (p.Pro358fs) rs932032926
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs) rs753828284
NM_000088.4(COL1A1):c.2908_2911del (p.Arg970fs) rs1555572401
NM_000088.4(COL1A1):c.299-2A>G
NM_000090.4(COL3A1):c.2176G>A (p.Gly726Arg) rs587779638
NM_000093.5(COL5A1):c.2701-25T>G rs765079080
NM_000111.3(SLC26A3):c.1514+1G>A
NM_000111.3(SLC26A3):c.571-1G>T rs386833485
NM_000132.4(F8):c.1172G>A (p.Arg391His) rs28935499
NM_000132.4(F8):c.1203G>A (p.Trp401Ter) rs2124106016
NM_000132.4(F8):c.1443+2T>G rs2073420861
NM_000132.4(F8):c.1910A>G (p.Asn637Ser) rs2073315379
NM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer) rs387906434
NM_000132.4(F8):c.5150_5151del (p.Tyr1717fs) rs2124046974
NM_000132.4(F8):c.5853A>C (p.Leu1951Phe)
NM_000132.4(F8):c.5855T>A (p.Val1952Glu) rs2123996355
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp) rs137852453
NM_000132.4(F8):c.6506G>A (p.Arg2169His) rs137852461
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys) rs137852464
NM_000132.4(F8):c.6545G>A (p.Arg2182His) rs137852466
NM_000132.4(F8):c.671-1G>A rs1255271151
NM_000132.4(F8):c.6976C>T (p.Arg2326Ter) rs137852354
NM_000133.4(F9):c.1138G>A (p.Ala380Thr) rs2148367990
NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter) rs886039550
NM_000138.5(FBN1):c.284C>A (p.Ser95Ter) rs922684362
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser) rs121918487
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.641dup (p.Tyr214Ter) rs2128821490
NM_000162.5(GCK):c.940del (p.Leu314fs)
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) rs863224974
NM_000166.6(GJB1):c.541G>A (p.Val181Met) rs879253909
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln) rs121918408
NM_000179.3(MSH6):c.1571dup (p.Tyr524Ter) rs1553412966
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.3(MSH6):c.2281_2282del (p.Arg761fs) rs1114167721
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs) rs587779243
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter) rs587779246
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs) rs1553414519
NM_000179.3(MSH6):c.3158_3159del (p.Cys1053fs) rs2104443138
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3560_3563del (p.Glu1187fs) rs2104521805
NM_000179.3(MSH6):c.3573dup (p.Val1192fs) rs1057517764
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs) rs1064794384
NM_000179.3(MSH6):c.3720dup (p.Cys1241fs) rs2104541388
NM_000179.3(MSH6):c.4001G>C (p.Arg1334Pro) rs267608122
NM_000179.3(MSH6):c.850dup (p.Asp284fs) rs267608062
NM_000182.5(HADHA):c.1811del (p.Gly604fs) rs747985669
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431
NM_000217.3(KCNA1):c.1210G>A (p.Val404Ile) rs104894355
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410
NM_000238.4(KCNH2):c.1810G>A (p.Gly604Ser) rs199473522
NM_000249.4(MLH1):c.150dup (p.Val51fs) rs63749956
NM_000249.4(MLH1):c.1554dup (p.Glu519Ter) rs63751689
NM_000249.4(MLH1):c.1896+1del rs267607868
NM_000249.4(MLH1):c.672del (p.Ser225fs) rs587779031
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.911del (p.Asp304fs) rs1553647969
NM_000251.3(MSH2):c.1120C>T (p.Gln374Ter) rs63750558
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1276+1G>A rs267607950
NM_000251.3(MSH2):c.1697del (p.Asn566fs) rs63750737
NM_000251.3(MSH2):c.1759+1G>A rs587779108
NM_000251.3(MSH2):c.1993del (p.His665fs) rs1667251882
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg) rs63750624
NM_000251.3(MSH2):c.892C>T (p.Gln298Ter) rs63750934
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) rs397515925
NM_000256.3(MYBPC3):c.2067+1G>A rs1444727212
NM_000256.3(MYBPC3):c.2096del (p.Pro699fs) rs397515947
NM_000256.3(MYBPC3):c.2309-2A>G rs111729952
NM_000256.3(MYBPC3):c.3357C>A (p.Tyr1119Ter) rs1565622952
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000261.2(MYOC):c.1109C>T (p.Pro370Leu) rs74315330
NM_000264.5(PTCH1):c.1197G>A (p.Trp399Ter)
NM_000268.4(NF2):c.1039G>T (p.Glu347Ter)
NM_000268.4(NF2):c.10del (p.Ala4fs) rs2064712705
NM_000268.4(NF2):c.1193T>C (p.Leu398Pro) rs2147082680
NM_000268.4(NF2):c.193C>T (p.Gln65Ter) rs2065661533
NM_000268.4(NF2):c.363+1G>A rs1601583839
NM_000268.4(NF2):c.448-1G>A rs2146966216
NM_000268.4(NF2):c.476del (p.Lys159fs)
NM_000268.4(NF2):c.499G>T (p.Glu167Ter)
NM_000268.4(NF2):c.517-1G>A rs1064796632
NM_000268.4(NF2):c.553G>T (p.Glu185Ter) rs2146972508
NM_000268.4(NF2):c.586C>T (p.Arg196Ter) rs1555993336
NM_000277.3(PAH):c.60+2del
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs) rs606231185
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.463T>C (p.Tyr155His) rs398123325
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter) rs398123331
NM_000321.3(RB1):c.1623del (p.Asn541_Leu542insTer)
NM_000321.3(RB1):c.1633G>T (p.Glu545Ter) rs1948534542
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.3(RB1):c.2242G>T (p.Glu748Ter) rs121913297
NM_000321.3(RB1):c.2520+3_2520+6del rs1131690858
NM_000321.3(RB1):c.2663+1G>A rs2138359672
NM_000321.3(RB1):c.409G>T (p.Glu137Ter) rs121913296
NM_000321.3(RB1):c.619C>T (p.Gln207Ter) rs2138107604
NM_000321.3(RB1):c.751C>T (p.Arg251Ter) rs1131690863
NM_000321.3(RB1):c.763C>T (p.Arg255Ter) rs587778842
NM_000321.3(RB1):c.796C>T (p.Gln266Ter)
NM_000321.3(RB1):c.958C>T (p.Arg320Ter) rs121913300
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000325.6(PITX2):c.343_364del (p.Arg115fs) rs1057519483
NM_000325.6(PITX2):c.350C>T (p.Pro117Leu) rs1057519484
NM_000325.6(PITX2):c.714_735del (p.Thr239fs) rs1057519487
NM_000325.6(PITX2):c.784_785del (p.Ser262fs) rs1057519488
NM_000325.6(PITX2):c.807T>A (p.Cys269Ter) rs1057519489
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000330.4(RS1):c.589C>T (p.Arg197Cys) rs281865354
NM_000346.4(SOX9):c.432-2A>T rs1908139210
NM_000350.3(ABCA4):c.1834C>T (p.Gln612Ter) rs1057517700
NM_000350.3(ABCA4):c.6386+1G>A rs745654673
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs) rs886041392
NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) rs121909208
NM_000358.3(TGFBI):c.1664G>A (p.Arg555Gln) rs121909209
NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser) rs121909210
NM_000369.5(TSHR):c.1839C>A (p.Tyr613Ter)
NM_000371.4(TTR):c.94C>G (p.Leu32Val) rs2144406525
NM_000383.4(AIRE):c.349del (p.Ala117fs)
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg) rs193922433
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000419.5(ITGA2B):c.1545-1G>A
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.5122G>T (p.Glu1708Ter)
NM_000426.4(LAMA2):c.5266A>T (p.Lys1756Ter) rs2114674584
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000458.4(HNF1B):c.809+1G>T
NM_000463.3(UGT1A1):c.1220del (p.Lys407fs) rs558109660
NM_000488.4(SERPINC1):c.1169dup (p.Arg391fs)
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000503.6(EYA1):c.1598-2del
NM_000517.6(HBA2):c.95+2_95+6del rs41474145
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.93-22_95del rs193922563
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.5(LDLR):c.373C>T (p.Gln125Ter) rs875989899
NM_000527.5(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) rs387906305
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000545.8(HNF1A):c.1522G>T (p.Glu508Ter)
NM_000545.8(HNF1A):c.863_864insC (p.Pro289fs) rs766191969
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) rs730882001
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) rs45517258
NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter) rs45517348
NM_000548.5(TSC2):c.4918C>T (p.His1640Tyr) rs45485092
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000551.4(VHL):c.189dup (p.Arg64fs) rs1553619402
NM_000551.4(VHL):c.341-1G>A rs1575927648
NM_000551.4(VHL):c.575del (p.Pro192fs) rs2125130735
NM_000552.5(VWF):c.1309_1326del (p.Asp437_Arg442del) rs267607305
NM_000552.5(VWF):c.2072del (p.Pro691fs) rs267607309
NM_000552.5(VWF):c.276dup (p.Asp93Ter) rs61753988
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys) rs61750071
NM_000552.5(VWF):c.4121G>A (p.Arg1374His) rs61750072
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr) rs61750584
NM_000552.5(VWF):c.5314delG
NM_000552.5(VWF):c.6798+2T>A
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.3911del (p.Asn1304fs) rs745757264
NM_000834.5(GRIN2B):c.3937_3940del (p.Glu1313fs)
NM_001001548.3(CD36):c.332_333del (p.Thr111fs) rs572295823
NM_001003694.2(BRPF1):c.1182_1183del (p.Ala396fs) rs1575155995
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001009944.3(PKD1):c.6982G>T (p.Glu2328Ter) rs2151783909
NM_001018005.2(TPM1):c.533G>A (p.Arg178His) rs397516375
NM_001020658.2(PUM1):c.213dup (p.Ala72fs) rs2124008285
NM_001024630.4(RUNX2):c.506G>A (p.Arg169Gln) rs104893995
NM_001024630.4(RUNX2):c.884del (p.Pro295fs) rs2150421218
NM_001029896.2(WDR45):c.2T>C (p.Met1Thr) rs1569523565
NM_001029896.2(WDR45):c.827+1G>C rs1557083958
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val) rs137853113
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs) rs1569237077
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu) rs796053180
NM_001042492.3(NF1):c.1845G>A (p.Lys615=) rs1131691080
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.2326-3T>G rs876658946
NM_001042492.3(NF1):c.3113+1G>T rs267606599
NM_001042492.3(NF1):c.3144G>A (p.Trp1048Ter) rs1555614635
NM_001042492.3(NF1):c.3496+2T>C rs766143785
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro) rs199474733
NM_001042492.3(NF1):c.6564dup (p.Pro2189fs) rs2151556401
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.997dup (p.Tyr333fs) rs1567835183
NM_001065.4(TNFRSF1A):c.236C>T (p.Thr79Met) rs104895219
NM_001083614.2(EARS2):c.212del (p.Phe71fs) rs778413603
NM_001083619.3(GRIA2):c.506del (p.Ala169fs) rs2126885680
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter) rs1555710726
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001105247.2(ARMC5):c.1199_1224dup (p.Ala409fs)
NM_001105247.2(ARMC5):c.337_338dup (p.Val114fs)
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001114753.3(ENG):c.-127C>T rs1060501408
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter) rs1554810490
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127255.2(NLRP7):c.2078G>C (p.Arg693Pro) rs104895502
NM_001127392.3(MYRF):c.648C>A (p.Tyr216Ter) rs753113267
NM_001130987.2(DYSF):c.5547-2A>G rs1238293747
NM_001164508.2(NEB):c.25333C>T (p.Gln8445Ter) rs2152763931
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001170629.2(CHD8):c.4875G>A (p.Trp1625Ter) rs1555314116
NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro) rs1588307140
NM_001174147.2(LMX1B):c.741+1G>A rs1427331961
NM_001197104.2(KMT2A):c.10064dup (p.Thr3356fs) rs2134409720
NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter) rs1085307154
NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter) rs886039269
NM_001256317.3(TMPRSS3):c.323-6G>A rs374793617
NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter) rs199546979
NM_001348716.2(KDM6B):c.3046dup (p.Arg1016fs) rs2151378140
NM_001349338.3(FOXP1):c.738del (p.Asn247fs) rs2106872055
NM_001356.5(DDX3X):c.372_373del (p.Asn124fs) rs1057518171
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter) rs770083296
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.3134_3135del (p.Val1045fs)
NM_001365902.3(NFIX):c.765_766del (p.Ile256fs) rs2145434937
NM_001368894.2(PAX6):c.114_121del (p.Pro39fs) rs1554985737
NM_001368894.2(PAX6):c.1225+1G>A rs1554982537
NM_001368894.2(PAX6):c.280_283dup (p.Pro95fs) rs1554985378
NM_001368894.2(PAX6):c.367G>T (p.Glu123Ter) rs1554985305
NM_001368894.2(PAX6):c.3G>T (p.Met1Ile) rs1554986754
NM_001368894.2(PAX6):c.580C>T (p.Gln194Ter) rs1554983571
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter) rs121907916
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter) rs886041222
NM_001368894.2(PAX6):c.862C>T (p.Gln288Ter) rs1554983229
NM_001369268.1(ACAN):c.492C>A (p.Tyr164Ter) rs375322679
NM_001372066.1(TFAP2A):c.791G>A (p.Gly264Glu) rs121909575
NM_001374385.1(ATP8B1):c.1573C>T (p.Arg525Ter) rs770257115
NM_001374828.1(ARID1B):c.1293_1308del (p.Gly434fs)
NM_001374828.1(ARID1B):c.5189_5194delinsAGGCT (p.Thr1730fs)
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) rs63751273
NM_001378418.1(TCF20):c.364dup (p.Gln122fs) rs777979354
NM_001378743.1(CYLD):c.2155A>G (p.Met719Val) rs1971438573
NM_001379403.1(WDR26):c.1498del (p.His500fs) rs2102897826
NM_001399.5(EDA):c.252del (p.Gly85fs) rs1569272328
NM_001453.3(FOXC1):c.100_109del (p.Gly34fs) rs1057519471
NM_001453.3(FOXC1):c.116_123del (p.Ala39fs) rs1057519472
NM_001453.3(FOXC1):c.1265C>A (p.Ser422Ter) rs1057519482
NM_001453.3(FOXC1):c.1491C>G (p.Tyr497Ter) rs760676014
NM_001453.3(FOXC1):c.316C>T (p.Gln106Ter) rs1057519475
NM_001453.3(FOXC1):c.487G>T (p.Glu163Ter) rs1057519477
NM_001453.3(FOXC1):c.599_617del (p.Gln200fs) rs1057519478
NM_001453.3(FOXC1):c.666_681del (p.Ile223fs) rs1057519479
NM_001453.3(FOXC1):c.718_719del (p.Leu240fs) rs1057519480
NM_001453.3(FOXC1):c.925_949del (p.Ser309fs) rs1057519481
NM_001453.3(FOXC1):c.99_108del (p.Gly34fs) rs2113110837
NM_001457.4(FLNB):c.5842C>T (p.Arg1948Ter) rs775301566
NM_001458.5(FLNC):c.6883C>T (p.Gln2295Ter) rs1585169831
NM_001655.5(ARCN1):c.431dup (p.Arg145fs) rs2135542081
NM_001655.5(ARCN1):c.508C>T (p.Arg170Ter) rs1018525321
NM_001844.5(COL2A1):c.1420-1G>A
NM_002055.5(GFAP):c.715C>T (p.Arg239Cys) rs58064122
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp) rs104893637
NM_002470.4(MYH3):c.2015G>A (p.Arg672His) rs121913617
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys) rs80338834
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter) rs80338835
NM_002585.4(PBX1):c.700C>T (p.Arg234Trp) rs1218945005
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_002968.3(SALL1):c.601C>T (p.Gln201Ter) rs2143450145
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) rs104894306
NM_003072.5(SMARCA4):c.2683C>T (p.Gln895Ter) rs2146417384
NM_003073.5(SMARCB1):c.575_584dup (p.Asp196fs)
NM_003079.5(SMARCE1):c.587del (p.Phe196fs)
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003106.4(SOX2):c.480C>G (p.Tyr160Ter) rs55683010
NM_003119.4(SPG7):c.1151-1G>C
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003172.4(SURF1):c.833+1G>A rs782609482
NM_003235.5(TG):c.6185G>A (p.Trp2062Ter)
NM_003482.4(KMT2D):c.15057_15061del (p.Leu5020fs)
NM_003482.4(KMT2D):c.2263dup (p.Arg755fs) rs1555196984
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003742.4(ABCB11):c.99-2A>G
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004069.6(AP2S1):c.43C>T (p.Arg15Cys) rs397514498
NM_004069.6(AP2S1):c.44G>A (p.Arg15His) rs397514499
NM_004247.4(EFTUD2):c.1719+1G>A rs2145460853
NM_004364.5(CEBPA):c.209del (p.Pro70fs) rs2145263762
NM_004380.3(CREBBP):c.3068del (p.Glu1023fs)
NM_004415.4(DSP):c.3444T>A (p.Cys1148Ter)
NM_004523.4(KIF11):c.2308C>T (p.Gln770Ter)
NM_004562.3(PRKN):c.155del (p.Asn52fs) rs754809877
NM_004656.4(BAP1):c.1480_1481del (p.Asp494fs) rs2153226700
NM_004656.4(BAP1):c.206del (p.Thr69fs)
NM_004656.4(BAP1):c.932-151G>A rs1705120040
NM_004826.4(ECEL1):c.2069G>A (p.Trp690Ter)
NM_004855.5(PIGB):c.847-10A>G rs779296101
NM_005121.3(MED13):c.2524C>T (p.Gln842Ter) rs2143471373
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) rs121917758
NM_005629.4(SLC6A8):c.950dup (p.Tyr317Ter) rs1569539359
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005670.4(EPM2A):c.108_139del (p.Ala37fs) rs1204045237
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.631-2A>G
NM_006087.4(TUBB4A):c.1164G>A (p.Met388Ile) rs797045074
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn) rs483352809
NM_006158.5(NEFL):c.262A>C (p.Thr88Pro) rs2117255599
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter) rs104894082
NM_006269.2(RP1):c.2035C>T (p.Gln679Ter) rs104894083
NM_006662.3(SRCAP):c.7215_7216del (p.Glu2405fs)
NM_006766.5(KAT6A):c.1133C>G (p.Ser378Ter) rs2150886525
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter) rs1395351821
NM_006767.4(LZTR1):c.401-1G>A
NM_006852.6(TLK2):c.907C>T (p.Arg303Ter) rs138247472
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006915.3(RP2):c.358C>T (p.Arg120Ter) rs104894927
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.655del (p.Glu219fs) rs786202497
NM_007194.4(CHEK2):c.684-2A>G rs2053419665
NM_007262.5(PARK7):c.105dup (p.Ala36fs) rs781600849
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter) rs80356904
NM_007294.4(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.4(BRCA1):c.2110_2111del (p.Asn704fs) rs80357814
NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter) rs80357574
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.4(BRCA1):c.3672del (p.Cys1225fs) rs398122677
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.3813dup (p.Asn1272Ter) rs397509108
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4357+6T>C rs80358143
NM_007294.4(BRCA1):c.4484+1del rs397509181
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys) rs41293463
NM_007294.4(BRCA1):c.547+1G>T rs80358030
NM_007294.4(BRCA1):c.547+2T>A rs80358047
NM_012309.5(SHANK2):c.4930G>T (p.Glu1644Ter) rs2058786429
NM_012330.4(KAT6B):c.1993+1G>A rs2133733164
NM_012338.4(TSPAN12):c.212_218dup (p.Phe73fs) rs1554403626
NM_013275.6(ANKRD11):c.2329_2332del (p.Glu777fs) rs2034485034
NM_013275.6(ANKRD11):c.4370_4371del (p.Lys1457fs) rs2151750249
NM_014112.5(TRPS1):c.3659del (p.Arg1220fs)
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter) rs2130531352
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys) rs121908511
NM_015040.4(PIKFYVE):c.4511G>A (p.Trp1504Ter) rs2125682979
NM_015065.3(EXPH5):c.4917C>A (p.Cys1639Ter) rs763170220
NM_015378.4(VPS13D):c.5725+2dup
NM_015922.3(NSDHL):c.1098dup (p.Arg367fs) rs121909834
NM_016006.6(ABHD5):c.1006G>T (p.Glu336Ter) rs762662276
NM_016169.4(SUFU):c.37_53dup (p.Gly19fs) rs2135597189
NM_016222.4(DDX41):c.1621+5G>T rs2127435833
NM_016628.5(WAC):c.1380_1383del (p.Asn461fs)
NM_017780.4(CHD7):c.1989dup (p.Glu664fs) rs2150669971
NM_017780.4(CHD7):c.4515dup (p.Gly1506fs)
NM_017780.4(CHD7):c.487C>T (p.Gln163Ter)
NM_017780.4(CHD7):c.6045del (p.Phe2015fs)
NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter) rs387907093
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018418.5(SPATA7):c.1171C>T (p.Arg391Ter) rs374268850
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His) rs755221106
NM_019032.6(ADAMTSL4):c.2270dup (p.Gly758fs) rs747160538
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) rs199473693
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764
NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg) rs121434621
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020988.3(GNAO1):c.724-8G>A rs1085307876
NM_021008.4(DEAF1):c.737G>C (p.Arg246Thr) rs1554944271
NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter) rs2151665554
NM_021625.5(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_021954.4(GJA3):c.56C>T (p.Thr19Met) rs1114167307
NM_022893.4(BCL11A):c.1A>G (p.Met1Val) rs1573109761
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter) rs121907906
NM_024426.6(WT1):c.769C>T (p.Gln257Ter)
NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs) rs1222150652
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter) rs786203714
NM_024675.4(PALB2):c.1947dup (p.Glu650fs) rs515726075
NM_024675.4(PALB2):c.2325dup (p.Phe776fs) rs876659997
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter) rs876659036
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3296del (p.Thr1099fs) rs1966508003
NM_024675.4(PALB2):c.487_488del (p.Val163fs) rs745533713
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_030773.4(TUBB1):c.624T>A (p.Tyr208Ter) rs2146377060
NM_031844.3(HNRNPU):c.520C>T (p.Gln174Ter) rs886041983
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_033380.3(COL4A5):c.2917+2T>A
NM_033380.3(COL4A5):c.3016+1G>A
NM_057175.5(NAA15):c.309C>G (p.Tyr103Ter)
NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys) rs1064793307
NM_133433.4(NIPBL):c.1530C>A (p.Tyr510Ter)
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_144997.7(FLCN):c.1021del (p.Arg341fs) rs1060502368
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1426dup (p.Asp476fs) rs1131690835
NM_144997.7(FLCN):c.946_947del (p.Ser316fs) rs1597591875
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152515.5(CKAP2L):c.501del (p.Asn167fs) rs2104884982
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter) rs754081635
NM_177438.3(DICER1):c.5326C>T (p.Gln1776Ter) rs2139811410
NM_177438.3(DICER1):c.712del (p.Thr238fs) rs2140259982
NM_177559.3(CSNK2A1):c.468T>A (p.Asp156Glu) rs1064795110
NM_178014.4(TUBB):c.1201G>A (p.Glu401Lys) rs587777357
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs) rs1057517753
NM_194454.3(KRIT1):c.1255-1_1256del rs1554514380
NM_194454.3(KRIT1):c.268C>T (p.Arg90Ter) rs1563313372
NM_197968.4(ZMYM2):c.2833dup (p.Ala945fs) rs2140777563
NM_197968.4(ZMYM2):c.978del (p.Val327fs)
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs) rs398124618
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter) rs762159022
NM_207122.2(EXT2):c.1201C>T (p.Gln401Ter)
NM_207352.4(CYP4V2):c.1219G>T (p.Glu407Ter) rs2126600867
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
der(6)t(6;10)(p25.2;q26.3)

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