ClinVar Miner

List of variants reported as likely pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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ClinVar version:
Total variants: 591
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HGVS dbSNP
NC_012920.1:m.8851T>C rs199476136
NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro) rs63750599
NM_000026.4(ADSL):c.1186C>T (p.Arg396Cys)
NM_000033.4(ABCD1):c.1667A>T (p.Gln556Leu)
NM_000033.4(ABCD1):c.1670T>G (p.Val557Gly)
NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser) rs128624216
NM_000036.2(AMPD1):c.567G>T (p.Gln189His) rs139582106
NM_000037.4(ANK1):c.2544_2548dup (p.Leu850fs)
NM_000037.4(ANK1):c.612+2_612+6del
NM_000038.6(APC):c.834G>A (p.Gln278=) rs1060503261
NM_000044.6(AR):c.2042T>A (p.Ile681Asn)
NM_000051.3(ATM):c.1898+2T>G rs587782124
NM_000051.3(ATM):c.3078G>T (p.Trp1026Cys) rs876660869
NM_000051.3(ATM):c.3G>A (p.Met1Ile) rs781404312
NM_000051.3(ATM):c.5497-1G>A rs876660245
NM_000051.3(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000051.3(ATM):c.875C>T (p.Pro292Leu) rs747727055
NM_000051.4(ATM):c.497-2_499del
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del) rs876660743
NM_000059.3(BRCA2):c.475G>A (p.Val159Met) rs80358702
NM_000059.3(BRCA2):c.7976+1G>T rs81002873
NM_000059.4(BRCA2):c.2167dup (p.Ser723fs)
NM_000059.4(BRCA2):c.2T>A (p.Met1Lys) rs80358547
NM_000061.2(BTK):c.1574G>A (p.Arg525Gln) rs128620183
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478
NM_000071.3(CBS):c.903C>A (p.Tyr301Ter)
NM_000083.3(CLCN1):c.2508+2T>A
NM_000089.3(COL1A2):c.2405G>T (p.Gly802Val) rs1562906013
NM_000089.4(COL1A2):c.1863+2T>G
NM_000090.3(COL3A1):c.3229G>A (p.Gly1077Ser) rs886038892
NM_000104.4(CYP1B1):c.1426T>C (p.Ser476Pro)
NM_000138.4(FBN1):c.2180G>A (p.Cys727Tyr) rs1555399381
NM_000147.5(FUCA1):c.524+1G>A
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000168.6(GLI3):c.3624dup (p.Pro1209fs)
NM_000171.4(GLRA1):c.569C>T (p.Thr190Met)
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000249.3(MLH1):c.1559-1G>A rs267607837
NM_000256.3(MYBPC3):c.506-2A>G
NM_000257.4(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.4(MYH7):c.4475T>C (p.Leu1492Pro)
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281
NM_000260.4(MYO7A):c.202_285+34del
NM_000260.4(MYO7A):c.849+5G>A rs1060499716
NM_000276.4(OCRL):c.1568A>C (p.Asp523Ala)
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His) rs137853250
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn) rs137853256
NM_000287.4(PEX6):c.2702del (p.Val901fs)
NM_000303.3(PMM2):c.255G>A (p.Gln85=)
NM_000304.4(PMP22):c.76_77del (p.Ser26fs)
NM_000304.4(PMP22):c.78+2_78+3del
NM_000322.5(PRPH2):c.515G>C (p.Arg172Pro)
NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu) rs62645931
NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter) rs1554268521
NM_000328.3(RPGR):c.1573-12A>G
NM_000328.3(RPGR):c.644G>T (p.Gly215Val) rs62650218
NM_000329.3(RPE65):c.1307G>T (p.Gly436Val) rs62637002
NM_000329.3(RPE65):c.209T>C (p.Phe70Ser)
NM_000329.3(RPE65):c.283G>C (p.Glu95Gln) rs61752874
NM_000335.5(SCN5A):c.4540-1G>T
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000346.4(SOX9):c.508C>G (p.Pro170Ala)
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.3(ABCA4):c.3413T>A (p.Leu1138His)
NM_000350.3(ABCA4):c.4849-2A>G
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017
NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val)
NM_000350.3(ABCA4):c.571-1G>T rs61748533
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)
NM_000377.2(WAS):c.809T>C (p.Leu270Pro) rs132630274
NM_000377.2(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000390.4(CHM):c.116+1G>A rs786204761
NM_000390.4(CHM):c.941-1G>T
NM_000419.5(ITGA2B):c.1752+2T>C
NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala) rs778608263
NM_000431.4(MVK):c.850del (p.Glu284fs)
NM_000435.3(NOTCH3):c.2929T>C (p.Cys977Arg)
NM_000435.3(NOTCH3):c.3893G>T (p.Cys1298Phe)
NM_000440.3(PDE6A):c.1927-1G>T
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) rs754012367
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000440.3(PDE6A):c.998+2T>G
NM_000440.3(PDE6A):c.999-2A>G
NM_000454.4(SOD1):c.272A>C (p.Asp91Ala) rs80265967
NM_000457.4(HNF4A):c.1010_1012TGC[6] (p.Leu341dup) rs776489992
NM_000487.6(ARSA):c.413C>G (p.Pro138Arg)
NM_000520.6(HEXA):c.1073+1G>A rs76173977
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000528.4(MAN2B1):c.763+2_763+8del rs1057517108
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys) rs1571820067
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) rs121913603
NM_000530.8(MPZ):c.646-2A>G
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg) rs746102997
NM_000539.3(RHO):c.937-1G>C
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys) rs121918608
NM_000702.4(ATP1A2):c.2776G>T (p.Val926Leu)
NM_000751.3(CHRND):c.868_871del (p.Val290fs)
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271
NM_000834.4(GRIN2B):c.2458G>A (p.Gly820Arg) rs1555103150
NM_000885.6(ITGA4):c.*2719T>C
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys) rs1587667544
NM_001005361.3(DNM2):c.1564C>T (p.Arg522Cys)
NM_001005373.4(LRSAM1):c.529-2A>G
NM_001005463.3(EBF3):c.1183C>T (p.Arg395Ter) rs1564816319
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757
NM_001018005.2(TPM1):c.251A>C (p.Asp84Ala)
NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys) rs780705654
NM_001037333.3(CYFIP2):c.2066A>G (p.Glu689Gly)
NM_001039591.3(USP9X):c.6194del (p.Gly2065fs)
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val) rs1060503101
NM_001040142.2(SCN2A):c.638T>A (p.Val213Asp)
NM_001040142.2(SCN2A):c.638T>G (p.Val213Gly)
NM_001040142.2(SCN2A):c.730T>C (p.Ser244Pro)
NM_001042492.3(NF1):c.2991-2A>G
NM_001042492.3(NF1):c.6428-3C>G rs374014162
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338
NM_001069.3(TUBB2A):c.1228G>A (p.Glu410Lys)
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001
NM_001080472.4(FITM2):c.1A>G (p.Met1Val)
NM_001080517.3(SETD5):c.4107_4110dup (p.Ser1371fs)
NM_001083962.2(TCF4):c.656-1G>A
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938
NM_001098.3(ACO2):c.844_862del (p.Thr282fs)
NM_001101.5(ACTB):c.209C>T (p.Pro70Leu) rs587779769
NM_001101.5(ACTB):c.589G>A (p.Gly197Ser) rs1554329317
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001101.5(ACTB):c.930_*52del (p.Asp311fs)
NM_001104631.2(PDE4D):c.575T>C (p.Leu192Pro)
NM_001109878.2(TBX22):c.458+1G>A
NM_001110792.2(MECP2):c.1176dup (p.Pro393fs)
NM_001110792.2(MECP2):c.62+1G>C
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter)
NM_001112741.2(KCNC1):c.623G>A (p.Cys208Tyr)
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001114753.3(ENG):c.-10C>T
NM_001122630.2(CDKN1C):c.802C>A (p.Arg268Ser)
NM_001123385.2(BCOR):c.4596-1G>A
NM_001127178.3(PIGG):c.1996_2005del (p.Arg666fs)
NM_001127178.3(PIGG):c.2569C>T (p.Gln857Ter) rs1294683568
NM_001127178.3(PIGG):c.2736-1G>T
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3882+2T>C
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln) rs1568447650
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127222.2(CACNA1A):c.781del (p.Thr261fs)
NM_001127644.2(GABRA1):c.1313A>G (p.Tyr438Cys)
NM_001127713.1(ATL1):c.1228G>A (p.Gly410Arg) rs1555365854
NM_001127898.4(CLCN5):c.416-1G>C
NM_001134407.3(GRIN2A):c.1498-2A>G
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272
NM_001142800.2(EYS):c.7723+1G>A
NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg) rs1190703859
NM_001163435.3(TBCK):c.1370dup (p.Asn457fs)
NM_001163435.3(TBCK):c.2512C>T (p.Gln838Ter)
NM_001163435.3(TBCK):c.304C>T (p.Gln102Ter)
NM_001164277.1(SLC37A4):c.381+2T>G rs782645078
NM_001166114.2(PNPLA6):c.3496G>A (p.Gly1166Ser) rs142422525
NM_001170535.3(ATAD3A):c.384+1G>A
NM_001170629.2(CHD8):c.2486+1G>A
NM_001171613.2(PREPL):c.1630-1G>A
NM_001184880.2(PCDH19):c.1693G>C (p.Ala565Pro)
NM_001190274.2(FBXO11):c.1260+1G>C
NM_001190274.2(FBXO11):c.1648G>C (p.Gly550Arg)
NM_001190274.2(FBXO11):c.1706A>G (p.Asn569Ser)
NM_001190274.2(FBXO11):c.2738_2739del (p.Leu912_Tyr913insTer) rs1553334863
NM_001190274.2(FBXO11):c.904_905dup (p.Glu303fs)
NM_001193416.3(DDX3X):c.1423C>T (p.Arg475Cys) rs1064794574
NM_001199198.3(TBC1D23):c.951_954del (p.Cys317fs)
NM_001199864.3(BCL2L2-PABPN1):c.433-694_433-686dup
NM_001201543.2(FAM161A):c.1830del (p.Leu611fs)
NM_001205254.2(OCLN):c.1054C>T (p.Gln352Ter)
NM_001211.6(BUB1B):c.2363_2364del (p.Ser788fs)
NM_001242897.2(DEPDC5):c.1870+2364dup rs1475605360
NM_001244008.2(KIF1A):c.1021A>G (p.Thr341Ala)
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001254752.1(UQCRB):c.*24G>T rs1554577679
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001267550.2(TTN):c.26764C>T (p.Arg8922Ter)
NM_001267550.2(TTN):c.49210_49211dup (p.Val16405fs)
NM_001267550.2(TTN):c.57165_57180del (p.Glu19055fs)
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568
NM_001271.4(CHD2):c.231_234dup (p.Leu79fs)
NM_001271.4(CHD2):c.4985_4986dup (p.His1663fs)
NM_001281463.1(SMC1A):c.2354G>A (p.Arg785His) rs1569356550
NM_001282531.3(ADNP):c.2946dup (p.Asp983fs)
NM_001321075.3(DLG4):c.1434dup (p.Asp479Ter)
NM_001330260.2(SCN8A):c.2603T>C (p.Ile868Thr) rs1555225794
NM_001330260.2(SCN8A):c.615-221G>A rs879255694
NM_001330288.2(SMARCC2):c.1972G>T (p.Val658Leu)
NM_001330691.3(CEP78):c.1424del (p.Val475fs)
NM_001347721.2(DYRK1A):c.489+2T>A
NM_001347721.2(DYRK1A):c.833A>T (p.Asp278Val) rs1555984343
NM_001347721.2(DYRK1A):c.924+2T>A
NM_001348323.3(TRIP12):c.1373dup (p.Leu459fs)
NM_001348323.3(TRIP12):c.4903C>T (p.Arg1635Ter) rs1574994308
NM_001348323.3(TRIP12):c.6181C>T (p.Gln2061Ter)
NM_001348800.3(ZBTB20):c.1949A>T (p.Asn650Ile)
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956
NM_001356.5(DDX3X):c.1315+1G>C
NM_001360.2(DHCR7):c.682C>T (p.Arg228Trp) rs775773057
NM_001360016.2(G6PD):c.1187C>G (p.Pro396Arg)
NM_001363711.2(DUOX2):c.4521del (p.Gln1508fs)
NM_001365.4(DLG4):c.38G>A (p.Trp13Ter)
NM_001365902.3(NFIX):c.623-2A>T
NM_001367721.1(CASK):c.1898G>A (p.Cys633Tyr)
NM_001369.2(DNAH5):c.6304C>T (p.Arg2102Cys) rs767019228
NM_001370100.5(ZMYND11):c.950+2T>G
NM_001371279.1(REEP1):c.2T>C (p.Met1Thr)
NM_001371279.1(REEP1):c.32+1G>T
NM_001371928.1(AHDC1):c.2168del (p.Pro723fs)
NM_001371928.1(AHDC1):c.4388del (p.Gly1463fs)
NM_001372.4(DNAH9):c.11195_11198del (p.Asp3732fs)
NM_001372.4(DNAH9):c.3354-1del
NM_001374828.1(ARID1B):c.1719G>A (p.Trp573Ter)
NM_001374828.1(ARID1B):c.2762-2A>C
NM_001374828.1(ARID1B):c.4712del (p.Met1571fs)
NM_001374828.1(ARID1B):c.5264-2A>C
NM_001375405.1(CEP120):c.2530_2548del (p.Tyr844fs)
NM_001377265.1(MAPT):c.2242T>A (p.Ser748Thr)
NM_001378120.1(MBD5):c.254_255del (p.Arg85fs)
NM_001378183.1(PIEZO2):c.4515-28_4515del
NM_001378778.1(MPDZ):c.394-1G>C
NM_001378969.1(KCND3):c.910T>C (p.Ser304Pro)
NM_001379029.1(CERT1):c.413C>T (p.Ser138Phe)
NM_001379403.1(WDR26):c.2204A>G (p.Asp735Gly)
NM_001384125.1(KIAA1109):c.5184+4A>G
NM_001384474.1(LOXHD1):c.5974_5975del (p.Lys1991_Ser1992insTer)
NM_001385012.1(NBEA):c.3337_3338del (p.Gly1113fs)
NM_001385012.1(NBEA):c.5367-2A>T
NM_001385012.1(NBEA):c.7771del (p.Cys2591fs)
NM_001385012.1(NBEA):c.8156G>A (p.Trp2719Ter)
NM_001458.4(FLNC):c.6889G>A (p.Val2297Met) rs1420394583
NM_001605.3(AARS1):c.997C>T (p.Arg333Ter)
NM_001759.4(CCND2):c.829C>T (p.Gln277Ter)
NM_001791.4(CDC42):c.67T>A (p.Tyr23Asn)
NM_001797.4(CDH11):c.1639C>T (p.Arg547Ter)
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser) rs886041895
NM_001844.5(COL2A1):c.1682G>T (p.Gly561Val)
NM_001845.6(COL4A1):c.2591G>A (p.Gly864Glu)
NM_001854.4(COL11A1):c.4565G>T (p.Gly1522Val)
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter) rs1064793983
NM_001958.5(EEF1A2):c.888C>A (p.His296Gln)
NM_001972.4(ELANE):c.170C>T (p.Ala57Val) rs1057520110
NM_001972.4(ELANE):c.722G>A (p.Trp241Ter)
NM_002024.6(FMR1):c.104+3_104+6del
NM_002055.5(GFAP):c.1070T>C (p.Leu357Pro) rs267607515
NM_002055.5(GFAP):c.1240del (p.Glu414fs)
NM_002069.6(GNAI1):c.155A>C (p.Gln52Pro)
NM_002074.5(GNB1):c.347G>A (p.Gly116Asp)
NM_002156.5(HSPD1):c.329G>T (p.Gly110Val)
NM_002204.4(ITGA3):c.1912A>T (p.Lys638Ter)
NM_002335.4(LRP5):c.1321G>A (p.Glu441Lys)
NM_002547.3(OPHN1):c.1410_1419del (p.Ala472fs)
NM_002576.5(PAK1):c.428T>C (p.Met143Thr)
NM_002739.5(PRKCG):c.1082G>A (p.Ser361Asn)
NM_002816.5(PSMD12):c.430C>T (p.Arg144Ter)
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381
NM_002878.3(RAD51D):c.796C>T (p.Arg266Cys) rs587781813
NM_002878.3(RAD51D):c.898C>T (p.Arg300Ter) rs750621215
NM_002890.3(RASA1):c.900-3_900-2del
NM_003002.4(SDHD):c.113_116dup (p.Ile40fs)
NM_003002.4(SDHD):c.169+5G>A
NM_003011.4(SET):c.236del (p.Pro79fs)
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) rs876657400
NM_003107.3(SOX4):c.182G>A (p.Arg61Gln)
NM_003108.4(SOX11):c.1009C>G (p.Arg337Gly)
NM_003108.4(SOX11):c.323A>C (p.Lys108Thr)
NM_003119.4(SPG7):c.1553-2_1553-1del rs772828460
NM_003119.4(SPG7):c.759-2A>G
NM_003179.3(SYP):c.829_832del (p.Asp277fs)
NM_003361.3(UMOD):c.326T>A (p.Val109Glu) rs780462125
NM_003361.3(UMOD):c.707C>T (p.Pro236Leu) rs1447458978
NM_003482.4(KMT2D):c.16442G>A (p.Cys5481Tyr)
NM_003560.4(PLA2G6):c.1021G>A (p.Ala341Thr)
NM_003590.5(CUL3):c.1386del (p.Cys462fs)
NM_003590.5(CUL3):c.2175+1G>C
NM_003590.5(CUL3):c.805_850dup (p.Leu284fs)
NM_003590.5(CUL3):c.883+1G>A
NM_003632.3(CNTNAP1):c.1044+1G>A
NM_003718.5(CDK13):c.2440del (p.His813_Ile814insTer)
NM_003919.3(SGCE):c.391-1G>C
NM_003924.4(PHOX2B):c.741_758dup (p.Ala255_Ala260dup)
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004181.5(UCHL1):c.349_364del (p.Phe117fs)
NM_004181.5(UCHL1):c.64dup (p.Val22fs)
NM_004183.4(BEST1):c.277T>C (p.Trp93Arg)
NM_004183.4(BEST1):c.287_298del (p.Gln96_Asn99del) rs1555099048
NM_004183.4(BEST1):c.684C>G (p.Asp228Glu) rs1431752515
NM_004183.4(BEST1):c.693T>A (p.Ser231Arg)
NM_004183.4(BEST1):c.713A>G (p.Gln238Arg)
NM_004187.5(KDM5C):c.150+1G>T
NM_004321.7(KIF1A):c.499C>T (p.Arg167Cys) rs672601365
NM_004321.7(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_004321.7(KIF1A):c.773C>T (p.Thr258Met) rs1553638086
NM_004321.7(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_004321.7(KIF1A):c.947G>A (p.Arg316Gln) rs749718096
NM_004370.6(COL12A1):c.5524+1G>A
NM_004370.6(COL12A1):c.7992del (p.Ile2664fs)
NM_004380.3(CREBBP):c.3369+1G>T rs587783480
NM_004380.3(CREBBP):c.5345C>T (p.Ala1782Val)
NM_004408.4(DNM1):c.1067T>G (p.Leu356Arg)
NM_004408.4(DNM1):c.1180A>G (p.Asn394Asp)
NM_004415.4(DSP):c.1325C>T (p.Ser442Phe)
NM_004415.4(DSP):c.1479G>A (p.Trp493Ter)
NM_004456.5(EZH2):c.398A>G (p.Tyr133Cys)
NM_004463.3(FGD1):c.1241C>T (p.Pro414Leu) rs1557189455
NM_004523.4(KIF11):c.2830C>T (p.Arg944Cys) rs387906642
NM_004589.4(SCO1):c.68dup (p.Leu23fs)
NM_004612.4(TGFBR1):c.671G>T (p.Trp224Leu)
NM_004697.4(PRPF4):c.944C>T (p.Pro315Leu) rs587777599
NM_004782.4(SNAP29):c.238-2A>G
NM_004817.4(TJP2):c.2355+1G>T
NM_004820.5(CYP7B1):c.1A>G (p.Met1Val)
NM_004859.4(CLTC):c.4955del (p.Gln1652fs)
NM_004928.3(CFAP410):c.443_444del (p.Glu148fs)
NM_004984.4(KIF5A):c.2613_2614del (p.Arg871fs)
NM_004984.4(KIF5A):c.2755+1G>T
NM_005188.3(CBL):c.1144A>G (p.Lys382Glu) rs267606705
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_005247.4(FGF3):c.166C>T (p.Leu56Phe)
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413
NM_005413.4(SIX3):c.419T>C (p.Phe140Ser)
NM_005476.7(GNE):c.5A>G (p.Glu2Gly)
NM_005554.4(KRT6A):c.1385T>A (p.Ile462Asn) rs57629991
NM_005618.4(DLL1):c.625dup (p.Glu209fs)
NM_005633.3(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005654.6(NR2F1):c.667_668insTCGCGCGCTGG (p.Ala223fs)
NM_005802.5(TOPORS):c.2558_2559insT (p.His855fs)
NM_005852.4(CHD3):c.3477C>A (p.Asn1159Lys) rs754919272
NM_005859.5(PURA):c.509T>G (p.Ile170Ser)
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005859.5(PURA):c.898del (p.Gln300fs)
NM_005862.3(STAG1):c.3559C>T (p.Arg1187Trp)
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_005957.4(MTHFR):c.1262G>C (p.Trp421Ser) rs200137991
NM_005996.4(TBX3):c.1190del (p.Phe397fs)
NM_006000.3(TUBA4A):c.1051_1055dup (p.Lys352fs)
NM_006000.3(TUBA4A):c.225del (p.Ile75fs)
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) rs773900146
NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala) rs1565627795
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His) rs886043627
NM_006060.6(IKZF1):c.448T>C (p.Cys150Arg)
NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg) rs869320691
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502
NM_006269.2(RP1):c.607G>A (p.Gly203Arg) rs786205589
NM_006343.3(MERTK):c.1689C>A (p.Thr563=)
NM_006343.3(MERTK):c.1690+1G>A
NM_006343.3(MERTK):c.1690+3A>T
NM_006343.3(MERTK):c.1690+5del
NM_006343.3(MERTK):c.2163T>A (p.His721Gln)
NM_006372.5(SYNCRIP):c.858_859del (p.Gly287fs)
NM_006445.4(PRPF8):c.6910T>C (p.Phe2304Leu)
NM_006445.4(PRPF8):c.6912C>G (p.Phe2304Leu) rs121434240
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs) rs1064797215
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383
NM_006593.4(TBR1):c.1190+1G>A
NM_006612.6(KIF1C):c.1049_1052del (p.Cys350fs)
NM_006612.6(KIF1C):c.1335+2_1335+5del
NM_006612.6(KIF1C):c.2223G>A (p.Trp741Ter)
NM_006612.6(KIF1C):c.2774_2777dup (p.Leu927fs)
NM_006612.6(KIF1C):c.3G>T (p.Met1Ile)
NM_006612.6(KIF1C):c.940+2T>G
NM_006766.5(KAT6A):c.2437-1G>A
NM_006767.4(LZTR1):c.264-13G>A rs587777176
NM_006772.3(SYNGAP1):c.1387-2del
NM_006796.3(AFG3L2):c.2062C>T (p.Pro688Ser)
NM_006852.4(TLK2):c.2092C>T (p.Arg698Ter) rs1555669421
NM_006852.6(TLK2):c.600_601del (p.Gln200fs)
NM_006892.4(DNMT3B):c.2421-11G>A rs547940069
NM_006915.3(RP2):c.769-3C>A
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006941.4(SOX10):c.1A>G (p.Met1Val)
NM_006950.3(SYN1):c.2del (p.Met1fs)
NM_007055.4(POLR3A):c.1572+1G>T
NM_007118.4(TRIO):c.1857_1860dup (p.Tyr621fs)
NM_007118.4(TRIO):c.1996C>T (p.Arg666Ter)
NM_007118.4(TRIO):c.6466-1G>A
NM_007118.4(TRIO):c.7027del (p.Gln2343fs)
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter) rs774702094
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1461+2T>C rs779844113
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007254.4(PNKP):c.63dup (p.Ile22fs)
NM_007262.5(PARK7):c.471_473del (p.Pro158del)
NM_007289.4(MME):c.2178del (p.Ala727fs)
NM_007294.3(BRCA1):c.5193+1del rs397509236
NM_007294.4(BRCA1):c.4185+2del
NM_007294.4(BRCA1):c.4185+4_4185+22del
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.671-26_1018del
NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu) rs1328780843
NM_012193.4(FZD4):c.1474G>C (p.Gly492Arg)
NM_012309.5(SHANK2):c.2802dup (p.Ala935fs)
NM_012330.4(KAT6B):c.2629+2T>C
NM_012470.4(TNPO3):c.1920+1G>A
NM_013275.6(ANKRD11):c.587_591del (p.Val196fs)
NM_013275.6(ANKRD11):c.977del (p.Gly326fs) rs1555529979
NM_014009.4(FOXP3):c.1156C>T (p.Arg386Cys)
NM_014049.5(ACAD9):c.728C>G (p.Thr243Arg)
NM_014053.4(FLVCR1):c.1317G>A (p.Met439Ile)
NM_014053.4(FLVCR1):c.755del (p.Gly252fs)
NM_014053.4(FLVCR1):c.847G>C (p.Ala283Pro) rs777525949
NM_014252.4(SLC25A15):c.392A>C (p.Lys131Thr)
NM_014336.5(AIPL1):c.1010_1011del (p.Glu337fs) rs62637016
NM_014362.4(HIBCH):c.913A>G (p.Thr305Ala)
NM_014491.4(FOXP2):c.504G>T (p.Gln168His)
NM_014491.4(FOXP2):c.505C>T (p.Gln169Ter)
NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys) rs113994123
NM_014712.3(SETD1A):c.1245dup (p.Glu416fs)
NM_014714.4(IFT140):c.2068-2A>G
NM_014795.4(ZEB2):c.1000T>G (p.Cys334Gly)
NM_014822.4(SEC24D):c.2596C>T (p.Arg866Ter)
NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe) rs1554593899
NM_014946.3(SPAST):c.1173+1G>A rs1060502226
NM_014946.3(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_014946.4(SPAST):c.1040A>C (p.Gln347Pro)
NM_014946.4(SPAST):c.1111C>G (p.Leu371Val)
NM_014946.4(SPAST):c.1173G>A (p.Leu391=)
NM_014946.4(SPAST):c.1321G>T (p.Asp441Tyr)
NM_014946.4(SPAST):c.1537-1G>T
NM_015021.3(ZNF292):c.1711del (p.Cys571fs)
NM_015021.3(ZNF292):c.3014T>G (p.Leu1005Ter)
NM_015021.3(ZNF292):c.6220_6223del (p.Asn2074fs)
NM_015100.4(POGZ):c.1048_1051del (p.Arg350fs)
NM_015125.5(CIC):c.601del (p.Arg201fs)
NM_015125.5(CIC):c.680A>G (p.Asn227Ser)
NM_015178.3(RHOBTB2):c.1376A>G (p.Asp459Gly)
NM_015178.3(RHOBTB2):c.1465C>G (p.Arg489Gly)
NM_015346.4(ZFYVE26):c.5791-6G>A rs771906344
NM_015443.4(KANSL1):c.2542-2A>G
NM_015443.4(KANSL1):c.2667-1G>A
NM_015559.3(SETBP1):c.3151dup (p.Tyr1051fs)
NM_015559.3(SETBP1):c.3770_3800dup (p.Gly1268fs)
NM_015629.4(PRPF31):c.1146+2T>G
NM_015629.4(PRPF31):c.946-2A>C
NM_015711.3(BICRA):c.868C>T (p.Gln290Ter)
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016035.5(COQ4):c.458C>T (p.Ala153Val)
NM_016035.5(COQ4):c.469C>A (p.Gln157Lys) rs1045118320
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp) rs774976459
NM_016360.4(TACO1):c.252_253del (p.Cys85fs)
NM_016529.6(ATP8A2):c.779+2T>A
NM_016628.5(WAC):c.1722G>A (p.Trp574Ter)
NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs) rs775657157
NM_017534.6(MYH2):c.4537+1G>C rs567336764
NM_017547.4(FOXRED1):c.1261G>A (p.Val421Met)
NM_017635.5(KMT5B):c.1843C>T (p.Arg615Ter)
NM_017635.5(KMT5B):c.2597_2598del (p.Ser866fs)
NM_017635.5(KMT5B):c.358del (p.Ser120fs)
NM_017635.5(KMT5B):c.554_557dup (p.Arg187fs)
NM_017739.4(POMGNT1):c.1832T>C (p.Leu611Pro)
NM_017780.4(CHD7):c.7782G>A (p.Trp2594Ter)
NM_017934.7(PHIP):c.1654-1G>A
NM_017934.7(PHIP):c.860C>A (p.Ser287Tyr) rs1085307845
NM_017934.7(PHIP):c.919_923del (p.Ile307fs)
NM_018082.5(POLR3B):c.1988C>T rs755312623
NM_018249.6(CDK5RAP2):c.5433C>A (p.Cys1811Ter)
NM_018263.6(ASXL2):c.1309C>T (p.Gln437Ter)
NM_018294.6(CWF19L1):c.467del (p.Pro156fs) rs879255654
NM_018294.6(CWF19L1):c.708+1G>A
NM_018297.4(NGLY1):c.1881G>A (p.Trp627Ter)
NM_018418.5(SPATA7):c.3G>A (p.Met1Ile)
NM_019023.5(PRMT7):c.1413+2T>G
NM_019108.4(SMG9):c.610dup (p.Val204fs)
NM_019842.4(KCNQ5):c.2725C>T (p.Arg909Ter)
NM_020338.4(ZMIZ1):c.2307C>G (p.Tyr769Ter)
NM_020338.4(ZMIZ1):c.2758C>T (p.Gln920Ter)
NM_020338.4(ZMIZ1):c.3042dup (p.Glu1015fs)
NM_020461.4(TUBGCP6):c.4315+1G>A
NM_020699.4(GATAD2B):c.1198_1199del (p.Ser400fs)
NM_020699.4(GATAD2B):c.1438C>T (p.Gln480Ter)
NM_020706.2(SCAF4):c.2375del (p.Ala792fs)
NM_020719.3(PRR12):c.4128_4129dup (p.Leu1377fs)
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_021120.4(DLG3):c.840+1G>A
NM_021942.6(TRAPPC11):c.1719del (p.Ser574fs)
NM_021964.3(ZNF148):c.1170_1173del (p.Leu390fs)
NM_022455.5(NSD1):c.4303-1G>C
NM_022552.5(DNMT3A):c.448+1G>A
NM_022786.3(ARV1):c.309_310del (p.Cys104fs)
NM_022893.4(BCL11A):c.1555_1556del (p.Leu519fs)
NM_022893.4(BCL11A):c.55+1_55+2insCCCAA
NM_022893.4(BCL11A):c.55+5del
NM_022893.4(BCL11A):c.55C>T (p.Pro19Ser)
NM_022893.4(BCL11A):c.55_56insT (p.Pro19fs)
NM_024496.4(IRF2BPL):c.581_599del (p.Gly194fs)
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024577.4(SH3TC2):c.805+2T>C
NM_024675.3(PALB2):c.212-2A>C rs730881879
NM_024675.3(PALB2):c.2559C>T (p.Gly853=) rs180177115
NM_024675.3(PALB2):c.2834+1G>A rs587776419
NM_024753.5(TTC21B):c.2209G>T (p.Glu737Ter)
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_024854.5(PYROXD1):c.1247_1250del (p.Asn416fs)
NM_024989.4(PGAP1):c.1089+1G>A
NM_025114.4(CEP290):c.5740G>T (p.Glu1914Ter)
NM_025243.4(SLC19A3):c.1172+1G>A
NM_025243.4(SLC19A3):c.597dup (p.His200fs) rs773140674
NM_030582.4(COL18A1):c.2437-2A>G rs778612831
NM_030632.3(ASXL3):c.3721_3724dup (p.Ser1242fs)
NM_030632.3(ASXL3):c.4839_4890del (p.Met1614fs)
NM_030662.3(MAP2K2):c.181A>G (p.Lys61Glu) rs730880517
NM_030665.4(RAI1):c.2396del (p.Pro799fs)
NM_030665.4(RAI1):c.2396dup (p.Gly800fs)
NM_030665.4(RAI1):c.613del (p.Gln205fs)
NM_031263.4(HNRNPK):c.1273G>T (p.Glu425Ter)
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678
NM_031418.4(ANO3):c.1819A>T (p.Ile607Phe) rs1554976234
NM_031448.6(C19orf12):c.26T>G (p.Met9Arg)
NM_032043.2(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032043.2(BRIP1):c.78dup (p.Ala27fs) rs1555618709
NM_032043.3(BRIP1):c.2839C>T (p.Gln947Ter)
NM_032108.4(SEMA6B):c.2067G>A (p.Trp689Ter)
NM_032119.4(ADGRV1):c.4378G>A (p.Gly1460Ser)
NM_032409.3(PINK1):c.1162T>C (p.Cys388Arg)
NM_032436.4(CHAMP1):c.2127T>G (p.Tyr709Ter) rs1555379968
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_033056.4(PCDH15):c.1997+1G>A rs763797356
NM_033056.4(PCDH15):c.3983+1G>T rs758921360
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_033116.6(NEK9):c.874-2A>G
NM_052867.4(NALCN):c.3522A>T (p.Arg1174Ser)
NM_052988.5(CDK10):c.729del (p.Glu244fs)
NM_053274.3(GLMN):c.1470_1473del (p.Asn490fs)
NM_054012.4(ASS1):c.-4C>T rs138350285
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.706-2A>G rs587780259
NM_058216.3(RAD51C):c.904+5G>T rs587782702
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995
NM_130839.5(UBE3A):c.2617_*12del (p.Ter873del)
NM_133433.4(NIPBL):c.5575-1G>A
NM_134261.3(RORA):c.919G>T (p.Glu307Ter)
NM_138459.5(NUS1):c.28_29dup (p.Val11fs)
NM_138459.5(NUS1):c.672_673del (p.Thr225fs)
NM_138576.4(BCL11B):c.2472C>A (p.Tyr824Ter)
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu) rs1582038191
NM_145207.3(SPATA5):c.983CAA[2] (p.Thr330del) rs796052243
NM_152464.3(TMEM199):c.20C>A (p.Ala7Glu) rs369488804
NM_153223.3(CEP120):c.1646C>T (p.Ala549Val) rs775080726
NM_153252.5(BRWD3):c.100C>T (p.Gln34Ter)
NM_153638.4(PANK2):c.1236-1G>A
NM_153638.4(PANK2):c.1575_1576insTA (p.Ile526Ter)
NM_153638.4(PANK2):c.791G>A (p.Arg264Gln)
NM_153676.4(USH1C):c.580-2A>T
NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del) rs879255264
NM_170707.4(LMNA):c.1158-2A>G rs267607636
NM_173477.5(USH1G):c.310A>G (p.Met104Val) rs149529031
NM_176787.5(PIGN):c.1434+5G>A rs369486176
NM_176824.3(BBS7):c.2023_2029del (p.Thr675fs)
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017
NM_181783.4(TMTC3):c.199C>G (p.His67Asp) rs754200057
NM_198253.3(TERT):c.2593C>T (p.Arg865Cys)
NM_198947.4(FAM111B):c.1861T>G (p.Tyr621Asp) rs587777236
NM_201253.3(CRB1):c.3541T>A (p.Cys1181Ser)
NM_205768.3(ZBTB18):c.1147del (p.Leu383fs)
NM_205768.3(ZBTB18):c.1174del (p.His392fs)
NM_205861.3(DHDDS):c.110G>A (p.Arg37His) rs1553121073
NM_206933.3(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp)
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu)
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)
NM_206933.4(USH2A):c.13491_13499dup (p.Thr4498_Thr4500dup)
NM_206933.4(USH2A):c.176G>A (p.Gly59Glu)
NM_206933.4(USH2A):c.9740-1G>A
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His) rs199476203
NM_213599.2(ANO5):c.155A>G rs143777403
NM_213599.2(ANO5):c.1664G>T (p.Ser555Ile) rs375014127
NM_213599.2(ANO5):c.1963T>C (p.Trp655Arg) rs912174567
NM_213599.2(ANO5):c.41-1G>A rs398124625
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys) rs143739249
NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter) rs9153
NR_023343.1(RNU4ATAC):n.48G>A rs863225422

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