ClinVar Miner

List of variants reported as pathogenic by Lifecell International Pvt. Ltd

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ClinVar version:
Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898 0.00339
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_000666.3(ACY1):c.575dup (p.Ser192fs) rs770702363 0.00014
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409 0.00007
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_000187.4(HGD):c.365C>T (p.Ala122Val) rs544956641 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_002016.2(FLG):c.2218C>T (p.Arg740Ter) rs777181377 0.00004
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His) rs766835582 0.00004
NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter) rs368970223 0.00004
NM_000070.3(CAPN3):c.802-9G>A rs761211705 0.00003
NM_000320.3(QDPR):c.545+1G>A rs761619802 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) rs137852330 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter) rs752199191 0.00003
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) rs376555896 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140 0.00003
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687 0.00002
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His) rs104894155 0.00002
NM_000137.4(FAH):c.709C>T (p.Arg237Ter) rs769550316 0.00002
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) rs121909742 0.00002
NM_001195248.2(APTX):c.596del (p.Arg199fs) rs770007531 0.00002
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_020778.5(ALPK3):c.297del (p.Ile99fs) rs770674513 0.00002
NM_000049.4(ASPA):c.503G>A (p.Arg168His) rs770706390 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000054.7(AVPR2):c.337C>T (p.Arg113Trp) rs28935496 0.00001
NM_000153.4(GALC):c.908+1G>A rs750524447 0.00001
NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter) rs752127949 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter) rs121907986 0.00001
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln) rs1304714042 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter) rs928945364 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 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_003676.4(DEGS1):c.517C>T (p.Arg173Ter) rs932183417 0.00001
NM_004006.3(DMD):c.5653C>T (p.Gln1885Ter) rs1295935628 0.00001
NM_005186.4(CAPN1):c.843+1G>C rs781683198 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe) rs281865026 0.00001
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_138376.3(TTC5):c.787C>T (p.Arg263Ter) rs199831317 0.00001
NM_201525.4(ADGRG1):c.1486C>T (p.Arg496Ter) rs746634404 0.00001
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) rs541517496
NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu) rs1557052294
NM_000059.4(BRCA2):c.8174G>A (p.Trp2725Ter) rs730881581
NM_000070.3(CAPN3):c.2051-1G>T rs886042108
NM_000111.3(SLC26A3):c.392C>T (p.Pro131Leu) rs386833481
NM_000132.4(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs) rs868273545
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) rs1057516674
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000159.4(GCDH):c.542_543del (p.Glu181fs) rs2145950197
NM_000206.3(IL2RG):c.294del (p.Val99fs) rs2092261618
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter) rs727504289
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1029del (p.Phe342_Cys343insTer) rs121908774
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe) rs146521846
NM_000500.9(CYP21A2):c.1118+2T>C rs1776240589
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000512.5(GALNS):c.29G>A (p.Trp10Ter) rs1967945316
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs) rs398123489
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter) rs757768731
NM_001029896.2(WDR45):c.827+1G>C rs1557083958
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001080517.3(SETD5):c.2347-7A>G rs886041593
NM_001099274.3(TINF2):c.845G>A (p.Arg282His) rs121918544
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127898.4(CLCN5):c.1557+1G>T rs1569540382
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu) rs2105852411
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter) rs794726736
NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter) rs794726778
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter) rs794726697
NM_001165963.4(SCN1A):c.272T>C (p.Ile91Thr) rs121918734
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_001165963.4(SCN1A):c.4002+1G>T rs1692153643
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter) rs398123593
NM_001165963.4(SCN1A):c.4223G>A (p.Trp1408Ter) rs794726784
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter) rs199727342
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) rs794726726
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser) rs121917937
NM_001182.5(ALDH7A1):c.947dup (p.Ser317fs) rs778003597
NM_001195518.2(MICU1):c.1072-1G>C rs754639936
NM_001195553.2(DCX):c.684_685del (p.Tyr229fs) rs1556401744
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) rs794729278
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_001365276.2(TNXB):c.3290_3291del (p.Lys1097fs) rs764070148
NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp) rs104895462
NM_002055.5(GFAP):c.259G>A (p.Val87Ile) rs267607518
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_003172.4(SURF1):c.324-11T>G rs375398247
NM_003722.5(TP63):c.955C>T (p.Arg319Cys) rs121908839
NM_004380.3(CREBBP):c.1447C>T (p.Arg483Ter) rs1555484797
NM_004429.5(EFNB1):c.499+1G>A rs1556107481
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys) rs587777570
NM_005249.5(FOXG1):c.256del (p.Gln86fs) rs786205001
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005591.4(MRE11):c.571C>T (p.Arg191Ter) rs1157413766
NM_005857.5(ZMPSTE24):c.1085dup (p.Leu362fs) rs137854889
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) rs767241917
NM_015046.7(SETX):c.6292C>T (p.Arg2098Ter) rs770684782
NM_015166.4(MLC1):c.135dup (p.Cys46fs) rs80358241
NM_016525.5(UBAP1):c.426_427del (p.Lys143fs) rs1563920252
NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter) rs886040983
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) rs115079861
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_020435.4(GJC2):c.1141_1151del (p.Ser381fs) rs2124967068
NM_020638.3(FGF23):c.536G>A (p.Arg179Gln) rs193922702
NM_025137.4(SPG11):c.2716del (p.Gln906fs) rs312262747
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter) rs755183117
NM_138694.4(PKHD1):c.8208del (p.Trp2736fs) rs2151512076
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152424.4(AMER1):c.1489C>T (p.Arg497Ter) rs1930251154
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter) rs118192226
NM_173076.3(ABCA12):c.3882G>A (p.Trp1294Ter) rs1452228678
NM_206933.4(USH2A):c.675_678del (p.Phe225fs) rs2102708663

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