ClinVar Miner

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

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ClinVar version:
Total variants: 179
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HGVS dbSNP gnomAD frequency
NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala) rs36117895 0.03931
NM_001128590.1(CYP21A2):c.-113G>A rs1246774295 0.00251
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe) rs527297896 0.00049
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter) rs200693133 0.00012
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969 0.00009
NM_001364171.2(ODAD1):c.448C>T (p.Arg150Ter) rs752269093 0.00006
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_000500.9(CYP21A2):c.1075G>A (p.Val359Ile) rs373579128 0.00004
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys) rs561343926 0.00004
NM_001360.3(DHCR7):c.725G>A (p.Arg242His) rs80338857 0.00004
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu) rs151107837 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro) rs28929768 0.00002
NM_000132.4(F8):c.5999-11G>A rs782132907 0.00002
NM_000402.4(G6PD):c.298T>C (p.Tyr100His) rs137852349 0.00002
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys) rs563971993 0.00002
NM_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625 0.00002
NM_181705.4(LYRM7):c.2T>C (p.Met1Thr) rs531275086 0.00002
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu) rs398124561 0.00002
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu) rs1449724176 0.00001
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 0.00001
NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln) rs760153272 0.00001
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192 0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001271.4(CHD2):c.5027G>A (p.Gly1676Glu) rs150951454 0.00001
NM_001360016.2(G6PD):c.551C>T (p.Ser184Phe) rs782315572 0.00001
NM_004629.2(FANCG):c.1761-2A>C rs765150956 0.00001
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266 0.00001
NM_015330.6(SPECC1L):c.3247G>A (p.Gly1083Ser) rs786201031 0.00001
NM_000033.4(ABCD1):c.1875C>A (p.Tyr625Ter)
NM_000033.4(ABCD1):c.346G>T (p.Gly116Ter)
NM_000045.4(ARG1):c.32T>C (p.Ile11Thr) rs28941474
NM_000045.4(ARG1):c.428A>G (p.Gln143Arg) rs754259099
NM_000048.4(ASL):c.478del (p.His160fs)
NM_000053.4(ATP7B):c.3550dup (p.Ile1184fs)
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr) rs1603321148
NM_000074.3(CD40LG):c.770G>T (p.Gly257Val)
NM_000124.4(ERCC6):c.3259C>T (p.Arg1087Ter) rs144445150
NM_000127.3(EXT1):c.1091G>A (p.Trp364Ter)
NM_000137.4(FAH):c.974C>T (p.Thr325Met) rs770713168
NM_000159.4(GCDH):c.511G>C (p.Gly171Arg) rs2145950047
NM_000202.8(IDS):c.1080_1081insGAATAA (p.Phe361delinsGluTer) rs2124006012
NM_000215.4(JAK3):c.3096+1G>T
NM_000228.3(LAMB3):c.3034C>T (p.Gln1012Ter) rs1057516756
NM_000234.3(LIG1):c.2444del (p.Leu815fs)
NM_000310.4(PPT1):c.713C>T (p.Pro238Leu) rs878853322
NM_000341.4(SLC3A1):c.1106_1129delinsCCCGGCAGG (p.Asp369_Arg377delinsAlaArgGlnGly)
NM_000359.3(TGM1):c.874C>T (p.Gln292Ter)
NM_000377.3(WAS):c.832G>T (p.Glu278Ter)
NM_000421.5(KRT10):c.546T>A (p.Tyr182Ter)
NM_000426.4(LAMA2):c.7630del (p.Ile2544fs) rs1784335277
NM_000439.5(PCSK1):c.818del (p.Asp273fs)
NM_000443.4(ABCB4):c.3220G>A (p.Gly1074Arg)
NM_000444.6(PHEX):c.2028_2032del (p.Thr677fs)
NM_000487.6(ARSA):c.937dup (p.Arg313fs)
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000540.3(RYR1):c.8136dup (p.Asp2713fs) rs761483896
NM_000558.5(HBA1):c.300+1G>A rs758093235
NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr) rs730880298
NM_001018005.2(TPM1):c.586G>T (p.Glu196Ter) rs1131003
NM_001040142.2(SCN2A):c.1635del (p.Arg545fs)
NM_001042545.2(LTBP4):c.608T>A (p.Leu203Ter)
NM_001110792.2(MECP2):c.746dup (p.Gly250fs) rs61749743
NM_001110792.2(MECP2):c.941C>G (p.Pro314Arg) rs61749723
NM_001127649.3(PEX26):c.379_380delinsGA (p.Leu127Glu)
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130987.2(DYSF):c.3433_3434dup (p.Met1146fs)
NM_001136035.4(TRMT1):c.24_33del (p.Leu10fs) rs750785552
NM_001159773.2(CANT1):c.836G>A (p.Gly279Asp) rs1233347902
NM_001164508.2(NEB):c.10170G>A (p.Trp3390Ter)
NM_001164508.2(NEB):c.9102+1G>C rs143644938
NM_001165963.4(SCN1A):c.1133del (p.Leu378fs) rs1698004184
NM_001165963.4(SCN1A):c.1171-1G>A
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys) rs796052973
NM_001165963.4(SCN1A):c.1466T>A (p.Leu489Ter) rs1553545740
NM_001165963.4(SCN1A):c.2589+2dup
NM_001165963.4(SCN1A):c.264+4_264+7del rs1574370981
NM_001165963.4(SCN1A):c.265del (p.Thr89fs) rs2105918665
NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg) rs121918796
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu) rs796052991
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_001165963.4(SCN1A):c.3038_3044del (p.Gln1013fs)
NM_001165963.4(SCN1A):c.3793C>A (p.Leu1265Met)
NM_001165963.4(SCN1A):c.3999G>A (p.Met1333Ile)
NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)
NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro) rs1064794766
NM_001165963.4(SCN1A):c.5299G>T (p.Val1767Phe)
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val) rs780809852
NM_001165963.4(SCN1A):c.5624_5630del (p.Val1875fs) rs2105425236
NM_001195248.2(APTX):c.729del (p.Lys243fs)
NM_001205254.2(OCLN):c.1542del (p.Gly515fs)
NM_001244008.2(KIF1A):c.3901+498del
NM_001287.6(CLCN7):c.1714del (p.Glu572fs)
NM_001303052.2(MYT1L):c.2010_2025dup (p.Asp676delinsIleProGlnArgIleTer)
NM_001323289.2(CDKL5):c.379C>T (p.His127Tyr)
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg) rs2148612918
NM_001347721.2(DYRK1A):c.840del (p.Lys280fs)
NM_001356.5(DDX3X):c.1490C>T (p.Ala497Val) rs796052236
NM_001376013.1(EPB41):c.768G>A (p.Trp256Ter)
NM_001384732.1(CPLANE1):c.6114del (p.Asp2039fs)
NM_001386393.1(PANK2):c.1189del (p.Met397fs)
NM_001739.2(CA5A):c.618+1G>T
NM_001972.4(ELANE):c.212G>T (p.Cys71Phe) rs878855315
NM_002055.5(GFAP):c.382G>A (p.Asp128Asn) rs267607509
NM_002085.5(GPX4):c.365del (p.Gly122fs)
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002495.4(NDUFS4):c.351-1G>C
NM_002662.5(PLD1):c.1062-2A>T
NM_003106.4(SOX2):c.389G>C (p.Gly130Ala) rs121918652
NM_003477.3(PDHX):c.791C>G (p.Ser264Ter)
NM_003482.4(KMT2D):c.7644del (p.Lys2548fs)
NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter) rs1555191598
NM_003619.4(PRSS12):c.1501A>T (p.Arg501Ter)
NM_003676.4(DEGS1):c.826-1G>A rs1273116884
NM_003839.4(TNFRSF11A):c.328dup (p.Arg110fs)
NM_004004.6(GJB2):c.505T>C (p.Cys169Arg) rs760489970
NM_004006.3(DMD):c.2381-1G>T rs398123887
NM_004035.7(ACOX1):c.1813dup (p.Ala605fs)
NM_004211.5(SLC6A5):c.975del (p.Lys325fs) rs2133775660
NM_004268.5(MED17):c.604A>T (p.Lys202Ter)
NM_004771.4(MMP20):c.625G>C (p.Glu209Gln) rs199788797
NM_005249.5(FOXG1):c.339del (p.Ala114fs)
NM_005249.5(FOXG1):c.609_613dup (p.Asn205fs)
NM_005327.7(HADH):c.166_169del (p.Val56fs)
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005560.6(LAMA5):c.5071del (p.Glu1691fs)
NM_005726.6(TSFM):c.192C>A (p.Cys64Ter) rs752852871
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006940.6(SOX5):c.814C>T (p.Gln272Ter)
NM_014268.4(MAPRE2):c.517C>T (p.Arg173Ter)
NM_014363.6(SACS):c.2185+1G>T
NM_014625.4(NPHS2):c.122_135dup (p.Ser46fs)
NM_015166.4(MLC1):c.798C>G (p.Ser266Arg) rs777790290
NM_016239.4(MYO15A):c.6611G>T (p.Arg2204Leu)
NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter) rs780953224
NM_017780.4(CHD7):c.3757_3778+7del
NM_017780.4(CHD7):c.5480del (p.Lys1827fs)
NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter) rs1563669432
NM_017882.3(CLN6):c.185G>A (p.Arg62His) rs751486476
NM_018105.3(THAP1):c.190_191del (p.Lys64fs)
NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter) rs606231237
NM_019042.5(PUS7):c.843-1G>A
NM_020166.5(MCCC1):c.570C>A (p.Cys190Ter) rs537827975
NM_020427.3(SLURP1):c.111C>A (p.Cys37Ter)
NM_020461.4(TUBGCP6):c.741+1G>A rs1460482736
NM_021147.5(CCNO):c.548T>A (p.Leu183Ter)
NM_022081.6(HPS4):c.133-2A>T
NM_022168.4(IFIH1):c.2304+1G>T rs762865950
NM_023110.3(FGFR1):c.*1111C>T rs867360704
NM_024757.5(EHMT1):c.3461+1G>C
NM_024769.5(CLMP):c.574C>T (p.Arg192Ter) rs1394600425
NM_025137.4(SPG11):c.6871dup (p.Cys2291fs)
NM_031310.3(PLVAP):c.1086del (p.Lys363fs)
NM_052845.4(MMAB):c.572G>C (p.Arg191Pro)
NM_058216.3(RAD51C):c.571+1del rs1327086366
NM_130837.3(OPA1):c.*4_*5+2del rs754411271
NM_133433.4(NIPBL):c.551dup (p.Gly185fs)
NM_138694.4(PKHD1):c.7310C>A (p.Ser2437Ter)
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln) rs146649803
NM_138927.4(SON):c.6657+198A>T
NM_152419.3(HGSNAT):c.1323C>A (p.Tyr441Ter) rs1804568176
NM_153033.5(KCTD7):c.207_214del (p.Cys71fs)
NM_153460.4(IL17RC):c.763-2_764del rs755012426
NM_172107.4(KCNQ2):c.634dup (p.Asp212fs)
NM_173495.3(PTCHD1):c.1434C>A (p.Tyr478Ter)
NM_174916.3(UBR1):c.4745del (p.Asn1582fs)
NM_182758.4(WDR72):c.2864T>G (p.Leu955Ter)
NM_182914.3(SYNE2):c.13156C>T (p.Gln4386Ter)
NM_194292.3(SASS6):c.170del (p.Leu57fs) rs763290832
NM_198252.3(GSN):c.-9-1987dup

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