ClinVar Miner

List of variants reported as pathogenic by DASA

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 403
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03738
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01412
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01288
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00475
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00393
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00380
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00368
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00364
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00347
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898 0.00339
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter) rs149484917 0.00246
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00178
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779 0.00166
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00151
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00149
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00116
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00115
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00096
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00084
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00050
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00035
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter) rs115209243 0.00031
NM_001003841.3(SLC6A19):c.532C>T (p.Arg178Ter) rs147837686 0.00029
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576 0.00029
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
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_001918.5(DBT):c.670G>T (p.Glu224Ter) rs74103423 0.00025
NM_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00024
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00022
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter) rs374144275 0.00019
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00017
NM_025145.7(CFAP43):c.2658G>A (p.Trp886Ter) rs139080358 0.00017
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_001039141.3(TRIOBP):c.1933C>T (p.Gln645Ter) rs377748152 0.00016
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592 0.00016
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00016
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00015
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_006929.5(SKIC2):c.3187C>T (p.Arg1063Ter) rs138923214 0.00014
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00013
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00013
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter) rs149459910 0.00011
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00009
NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter) rs759781200 0.00009
NM_018451.5(CPAP):c.1586C>G (p.Ser529Ter) rs202058504 0.00009
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu) rs148038173 0.00008
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409 0.00007
NM_006059.4(LAMC3):c.3871C>T (p.Arg1291Ter) rs201793200 0.00007
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter) rs142375551 0.00007
NM_000492.4(CFTR):c.3140-26A>G rs76151804 0.00006
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) rs78194216 0.00006
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter) rs113994130 0.00005
NM_003632.3(CNTNAP1):c.2901_2902del (p.Cys968fs) rs751050956 0.00005
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762 0.00005
NM_005677.4(COLQ):c.1289A>C (p.Tyr430Ser) rs121908923 0.00005
NM_014285.7(EXOSC2):c.89G>T (p.Gly30Val) rs537467155 0.00005
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961 0.00005
NM_198525.3(KIF7):c.2896_2897del (p.Ala966fs) rs752248403 0.00005
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000237.3(LPL):c.272G>A (p.Trp91Ter) rs118204070 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392 0.00004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530 0.00004
NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter) rs374894037 0.00004
NM_004211.5(SLC6A5):c.1131C>A (p.Tyr377Ter) rs121908493 0.00004
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp) rs786203983 0.00004
NM_020461.4(TUBGCP6):c.895C>T (p.Arg299Ter) rs192919234 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294 0.00003
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs) rs80359395 0.00003
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962 0.00003
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457 0.00003
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln) rs201951824 0.00003
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157 0.00003
NM_002225.5(IVD):c.1175G>A (p.Arg392His) rs982218848 0.00003
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs) rs752729755 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter) rs199939108 0.00003
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659 0.00003
NM_022773.4(LMF1):c.895C>T (p.Gln299Ter) rs554054538 0.00003
NM_000082.4(ERCC8):c.600dup (p.Ile201fs) rs1468231556 0.00002
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys) rs764670084 0.00002
NM_000237.3(LPL):c.755T>C (p.Ile252Thr) rs118204080 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526 0.00002
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000478.6(ALPL):c.667C>T (p.Arg223Trp) rs766076920 0.00002
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp) rs373371572 0.00002
NM_001015880.2(PAPSS2):c.1000C>T (p.Arg334Ter) rs121908952 0.00002
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter) rs74315512 0.00002
NM_006282.5(STK4):c.442C>T (p.Arg148Ter) rs749441226 0.00002
NM_015346.4(ZFYVE26):c.4804C>T (p.Arg1602Ter) rs558285072 0.00002
NM_199242.3(UNC13D):c.551G>A (p.Trp184Ter) rs754292065 0.00002
NM_000089.4(COL1A2):c.946G>A (p.Gly316Ser) rs72656392 0.00001
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro) rs766074609 0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His) rs199472720 0.00001
NM_000237.3(LPL):c.337T>C (p.Trp113Arg) rs118204069 0.00001
NM_000237.3(LPL):c.701C>T (p.Pro234Leu) rs118204060 0.00001
NM_000237.3(LPL):c.808C>T (p.Arg270Cys) rs118204077 0.00001
NM_000237.3(LPL):c.809G>A (p.Arg270His) rs118204062 0.00001
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys) rs104894601 0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) rs752058510 0.00001
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met) rs121908548 0.00001
NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu) rs61750065 0.00001
NM_000410.4(HFE):c.211C>T (p.Arg71Ter) rs759524388 0.00001
NM_000478.6(ALPL):c.648+1G>A rs749544042 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000687.4(AHCY):c.145C>T (p.Arg49Cys) rs369428934 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001038603.3(MARVELD2):c.1331+1G>A rs762352115 0.00001
NM_001042472.3(ABHD12):c.1054C>T (p.Arg352Ter) rs267606624 0.00001
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) rs587783057 0.00001
NM_001082538.3(TCTN1):c.736A>T (p.Lys246Ter) rs748215804 0.00001
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter) rs137852970 0.00001
NM_001126108.2(SLC12A3):c.3025C>T (p.Arg1009Ter) rs781209989 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001165963.4(SCN1A):c.5734C>T (p.Arg1912Ter) rs77216276 0.00001
NM_001171.6(ABCC6):c.3971G>A (p.Trp1324Ter) rs72653750 0.00001
NM_001365536.1(SCN9A):c.2723G>A (p.Trp908Ter) rs794729216 0.00001
NM_001369.3(DNAH5):c.5557A>T (p.Lys1853Ter) rs748618094 0.00001
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter) rs781469274 0.00001
NM_001378778.1(MPDZ):c.1735C>T (p.Arg579Ter) rs571799365 0.00001
NM_001844.5(COL2A1):c.3574C>T (p.Arg1192Ter) rs886042651 0.00001
NM_002473.6(MYH9):c.2105G>A (p.Arg702His) rs80338827 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter) rs104894655 0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_014585.6(SLC40A1):c.610G>A (p.Gly204Ser) rs387907377 0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009 0.00001
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile) rs587777585 0.00001
NM_024570.4(RNASEH2B):c.172C>T (p.Gln58Ter) rs75326546 0.00001
NM_032861.4(SERAC1):c.1102C>T (p.Arg368Ter) rs758745099 0.00001
NM_145207.3(AFG2A):c.1528C>T (p.Arg510Ter) rs267600009 0.00001
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) rs137852925 0.00001
NM_152443.3(RDH12):c.316C>T (p.Arg106Ter) rs752242512 0.00001
NM_201384.3(PLEC):c.6970C>T (p.Arg2324Ter) rs1554691029 0.00001
NM_000051.4(ATM):c.4642_4645del (p.Asp1548fs) rs876659535
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs) rs587782847
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter) rs1566498495
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) rs746244182
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1138del (p.Ser380fs) rs80359264
NM_000059.4(BRCA2):c.1389_1390del (p.Val464fs) rs80359283
NM_000059.4(BRCA2):c.2978G>A (p.Trp993Ter) rs80358543
NM_000059.4(BRCA2):c.3848dup (p.Ser1284fs) rs397507317
NM_000059.4(BRCA2):c.4808del (p.Asn1603fs) rs80359466
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8754+1G>T rs397508006
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000070.3(CAPN3):c.1322del (p.Gly441fs) rs1555421871
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) rs121434545
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000071.3(CBS):c.676G>A (p.Ala226Thr) rs763835246
NM_000080.4(CHRNE):c.130dup (p.Glu44fs) rs762368691
NM_000083.3(CLCN1):c.2172+1G>A rs1273524525
NM_000088.4(COL1A1):c.1821+1G>A rs66555264
NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser) rs72658143
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser) rs66612022
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter) rs577021605
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter) rs111671429
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter) rs111687884
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter) rs397515848
NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter) rs112550005
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.812G>T (p.Gly271Val) rs1564919048
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000156.6(GAMT):c.491del (p.Gly164fs) rs749390953
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) rs104894643
NM_000202.8(IDS):c.814C>T (p.Gln272Ter) rs2089436689
NM_000204.5(CFI):c.1450_1454del (p.Leu484fs) rs752767269
NM_000218.3(KCNQ1):c.778C>T (p.Gln260Ter) rs1848346228
NM_000256.3(MYBPC3):c.3662del (p.Leu1221fs) rs863225107
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer) rs62642906
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter) rs76492282
NM_000282.4(PCCA):c.1831C>T (p.Gln611Ter) rs2152894046
NM_000284.4(PDHA1):c.905G>A (p.Arg302His) rs1064794149
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu) rs74315401
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.8(PTEN):c.494G>T (p.Gly165Val) rs786204863
NM_000320.3(QDPR):c.421del (p.Leu141fs) rs1577191558
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys) rs121908544
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer) rs779956047
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000426.4(LAMA2):c.1255del (p.Ile419fs) rs1185229314
NM_000426.4(LAMA2):c.4682del (p.Lys1561fs) rs1246940477
NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys) rs863225297
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg) rs1599382214
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) rs797045014
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) rs121909202
NM_000531.6(OTC):c.131C>T (p.Thr44Ile) rs72554310
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter) rs587779343
NM_000539.3(RHO):c.266G>A (p.Gly89Asp) rs104893772
NM_000642.3(AGL):c.1383G>A (p.Trp461Ter) rs2101132362
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln) rs121909089
NM_001009944.3(PKD1):c.6472C>T (p.Gln2158Ter) rs2092423837
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter) rs796053366
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys) rs796053367
NM_001038.6(SCNN1A):c.1522C>T (p.Arg508Ter) rs137852634
NM_001040142.2(SCN2A):c.4267G>T (p.Gly1423Ter) rs1553461660
NM_001042492.3(NF1):c.1908del (p.Ser637fs) rs2144026600
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter) rs876660444
NM_001042492.3(NF1):c.3097C>T (p.Gln1033Ter) rs1131691104
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.654+1G>A rs1060500245
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001080.3(ALDH5A1):c.621del (p.Ser208fs) rs1306678453
NM_001080517.3(SETD5):c.1498C>T (p.Gln500Ter) rs1559427364
NM_001100.4(ACTA1):c.821C>T (p.Ala274Val) rs1553255357
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) rs104894003
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His) rs121912678
NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val) rs121909382
NM_001127453.2(GSDME):c.781C>T (p.Arg261Ter) rs200205042
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter) rs797044813
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn) rs1554310600
NM_001142864.4(PIEZO1):c.307C>T (p.Arg103Ter) rs759026521
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter) rs794726752
NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter) rs794726759
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr) rs121917980
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs) rs782297546
NM_001197104.2(KMT2A):c.3451C>T (p.Arg1151Ter) rs868985556
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001244008.2(KIF1A):c.757G>A (p.Glu253Lys) rs672601369
NM_001271.4(CHD2):c.4921C>T (p.Gln1641Ter) rs864309548
NM_001278116.2(L1CAM):c.1672C>T (p.Arg558Ter) rs1557091773
NM_001282534.2(KCNK9):c.706G>A (p.Gly236Arg) rs121908332
NM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter) rs917027829
NM_001291415.2(KDM6A):c.3919C>T (p.Arg1307Trp) rs1450363794
NM_001312909.2(FAM111A):c.1020TTC[2] (p.Ser343del) rs1565206032
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) rs869025203
NM_001356.5(DDX3X):c.136C>T (p.Arg46Ter) rs1569234653
NM_001360.3(DHCR7):c.433A>C (p.Ile145Leu) rs1555146475
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001369.3(DNAH5):c.11571-1G>A rs1481337703
NM_001369.3(DNAH5):c.12397G>T (p.Glu4133Ter) rs376372961
NM_001372044.2(SHANK3):c.3865dup (p.Ala1289fs) rs2146831793
NM_001375380.1(EBF3):c.1210C>T (p.Arg404Ter) rs1564816319
NM_001376.5(DYNC1H1):c.10420C>T (p.Arg3474Trp) rs757725348
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter) rs28730854
NM_001379500.1(COL18A1):c.2978_2987del (p.Pro993fs) rs756797124
NM_001379659.1(ZNF142):c.1852C>T (p.Arg618Ter) rs369649419
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter) rs587777141
NM_001384474.1(LOXHD1):c.3924C>A (p.Tyr1308Ter) rs184966970
NM_001457.4(FLNB):c.1945C>T (p.Arg649Ter) rs80356517
NM_001458.5(FLNC):c.4108C>T (p.Arg1370Ter) rs1342121466
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) rs587777387
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter) rs1064796453
NM_002055.5(GFAP):c.716G>A (p.Arg239His) rs59565950
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs) rs1566443170
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter) rs796052733
NM_002470.4(MYH3):c.533C>T (p.Thr178Ile) rs121913619
NM_002485.5(NBN):c.1396dup (p.Arg466fs) rs1349928568
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.5(PTPN11):c.172A>C (p.Asn58His) rs397507505
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002880.4(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_003000.3(SDHB):c.591del (p.Ser198fs) rs1060503757
NM_003172.4(SURF1):c.758_759del (p.Thr253fs) rs782349178
NM_003172.4(SURF1):c.792_793del (p.Arg264fs) rs782490558
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter) rs121908489
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004333.6(BRAF):c.1411G>T (p.Val471Phe) rs121913376
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser) rs1554767313
NM_004985.5(KRAS):c.466T>A (p.Phe156Ile) rs397517042
NM_005149.3(TBX19):c.688G>T (p.Glu230Ter) rs930801019
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005629.4(SLC6A8):c.1455G>A (p.Trp485Ter) rs1569539443
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr) rs397517180
NM_005732.4(RAD50):c.2944A>T (p.Lys982Ter) rs1581004859
NM_005859.5(PURA):c.116dup (p.Gly40fs) rs886041754
NM_006005.3(WFS1):c.1243_1245del (p.Val415del) rs863224265
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006859.4(LIAS):c.649C>T (p.Arg217Ter) rs997841253
NM_007294.4(BRCA1):c.2059C>T (p.Gln687Ter) rs273898674
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.4(BRCA1):c.376C>T (p.Gln126Ter) rs1085307902
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer) rs80357887
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs) rs80357867
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter) rs1769021763
NM_014363.6(SACS):c.1769_1770del (p.Val590fs) rs1383333220
NM_014704.4(CEP104):c.1879G>T (p.Glu627Ter) rs750473230
NM_014946.4(SPAST):c.1493+2_1493+5del rs1558337180
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs) rs1301328139
NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter) rs941230062
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017780.4(CHD7):c.1808_1811del (p.Asn603fs) rs1811203974
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017934.7(PHIP):c.763C>T (p.Arg255Ter) rs1064796868
NM_018486.3(HDAC8):c.937C>T (p.Arg313Ter) rs1569316085
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_020320.5(RARS2):c.1390C>T (p.Gln464Ter) rs753312969
NM_020451.3(SELENON):c.713dup (p.Asn238fs) rs368104077
NM_020451.3(SELENON):c.997_1000del (p.Val333fs) rs886041686
NM_022356.4(P3H1):c.838C>T (p.Gln280Ter) rs1652551021
NM_022455.5(NSD1):c.1894C>T (p.Arg632Ter) rs1481136060
NM_022455.5(NSD1):c.3549dup (p.Glu1184Ter) rs797045813
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp) rs587784176
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter) rs1060502748
NM_025137.4(SPG11):c.529_533del (p.Ile177fs) rs312262716
NM_030632.3(ASXL3):c.1738G>T (p.Glu580Ter) rs1555742333
NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter) rs769215629
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser) rs104894359
NM_033453.4(ITPA):c.124+2T>C rs1408254396
NM_130839.5(UBE3A):c.1066C>T (p.Arg356Ter) rs2080238010
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_145239.3(PRRT2):c.649dup (p.Arg217fs) rs587778771
NM_152424.4(AMER1):c.1057C>T (p.Arg353Ter) rs137852216
NM_152743.4(BRAT1):c.1371_1395+16del rs1224820591
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_153682.3(PIGP):c.384del (p.Glu129fs) rs778481061
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389

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