ClinVar Miner

List of variants reported as pathogenic by Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

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ClinVar version:
Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_014055.4(IFT81):c.1441C>T (p.Arg481Ter) rs201791587 0.00005
NM_176806.4(MOCS2):c.45T>A (p.Ser15Arg) rs1554028127 0.00005
NM_000187.4(HGD):c.347T>C (p.Leu116Pro) rs569846003 0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945 0.00003
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) rs121918256 0.00003
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246 0.00002
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln) rs120074178 0.00002
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp) rs766005419 0.00002
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter) rs756762196 0.00002
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645 0.00002
NM_000112.4(SLC26A2):c.796dup (p.Thr266fs) rs767996373 0.00001
NM_000152.5(GAA):c.1551+1G>T rs770780848 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp) rs1393386120 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600 0.00001
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) rs1800171 0.00001
NM_000218.3(KCNQ1):c.1597C>T (p.Arg533Trp) rs199472793 0.00001
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg) rs179489 0.00001
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394 0.00001
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile) rs547709692 0.00001
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749 0.00001
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170 0.00001
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys) rs879253810 0.00001
NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His) rs370694515 0.00001
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192 0.00001
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp) rs879253815 0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490 0.00001
NM_000709.4(BCKDHA):c.476G>A (p.Arg159Gln) rs773048903 0.00001
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) rs137852871 0.00001
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter) rs753698250 0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515 0.00001
NM_001159773.2(CANT1):c.896C>T (p.Pro299Leu) rs267606700 0.00001
NM_001918.5(DBT):c.939G>C (p.Lys313Asn) rs398123676 0.00001
NM_003477.3(PDHX):c.742C>T (p.Gln248Ter) rs113309941 0.00001
NM_004239.4(TRIP11):c.526C>T (p.Arg176Ter) rs758589172 0.00001
NM_006017.3(PROM1):c.730C>T (p.Arg244Ter) rs373331232 0.00001
NM_006759.4(UGP2):c.34A>G (p.Met12Val) rs768305634 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_183050.4(BCKDHB):c.554C>T (p.Pro185Leu) rs148905512 0.00001
NM_000061.3(BTK):c.1176C>A (p.Tyr392Ter) rs782429199
NM_000061.3(BTK):c.126T>A (p.Tyr42Ter) rs2147448164
NM_000061.3(BTK):c.1632-2A>T rs886039555
NM_000061.3(BTK):c.164dup (p.Ile56fs) rs2147447605
NM_000061.3(BTK):c.842G>A (p.Trp281Ter) rs2147431031
NM_000061.3(BTK):c.998A>G (p.His333Arg) rs193922133
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser) rs67368147
NM_000088.4(COL1A1):c.2831delG rs2144549369
NM_000088.4(COL1A1):c.4189G>T (p.Glu1397Ter) rs902407269
NM_000089.4(COL1A2):c.231del (p.Phe77fs) rs2115865220
NM_000089.4(COL1A2):c.821G>T (p.Gly274Val)
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000138.5(FBN1):c.3458G>T (p.Cys1153Phe)
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr) rs137854471
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg) rs202095215
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu) rs2039212985
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1A>G (p.Met1Val) rs786204467
NM_000152.5(GAA):c.546+2_546+5del rs1181354869
NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu) rs779383393
NM_000218.3(KCNQ1):c.1480dup (p.Glu494fs) rs878854349
NM_000218.3(KCNQ1):c.1686-2A>G rs878854350
NM_000218.3(KCNQ1):c.1703G>C (p.Gly568Ala) rs199472806
NM_000218.3(KCNQ1):c.1733-1G>C rs878854348
NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe) rs794728536
NM_000218.3(KCNQ1):c.443del (p.Tyr148fs) rs878854347
NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs) rs763462603
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp) rs794728568
NM_000218.3(KCNQ1):c.758C>G (p.Ser253Cys) rs794728513
NM_000218.3(KCNQ1):c.821TCT[1] (p.Phe275del) rs397508126
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del) rs397508127
NM_000238.4(KCNH2):c.1920C>A (p.Phe640Leu) rs199472970
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del) rs765373403
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
NM_000255.4(MMUT):c.1849CTT[1] (p.Leu618del) rs398123277
NM_000255.4(MMUT):c.653A>G (p.Gln218Arg) rs869320653
NM_000282.4(PCCA):c.105+1G>A rs879253804
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs) rs879253806
NM_000282.4(PCCA):c.134_135del (p.Leu45fs) rs879253809
NM_000282.4(PCCA):c.1353+5_1353+9del rs764045674
NM_000282.4(PCCA):c.1747-1G>C rs879253803
NM_000282.4(PCCA):c.184-1G>A rs879253807
NM_000282.4(PCCA):c.184del (p.Thr62fs) rs879253812
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg) rs774949844
NM_000282.4(PCCA):c.284A>G (p.Asp95Gly) rs879253801
NM_000282.4(PCCA):c.431G>T (p.Gly144Val) rs879253808
NM_000282.4(PCCA):c.467T>A (p.Leu156Ter) rs760387660
NM_000282.4(PCCA):c.548T>G (p.Leu183Ter) rs879253811
NM_000282.4(PCCA):c.600+1G>T rs879253802
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg) rs879253805
NM_000288.4(PEX7):c.294del (p.Ala100fs) rs1456007349
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000500.9(CYP21A2):c.1118G>A (p.Ser373Asn) rs1554305880
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000527.5(LDLR):c.1070del (p.Glu357fs) rs1555804717
NM_000531.6(OTC):c.386G>A (p.Arg129His) rs66656800
NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys) rs777027944
NM_000532.5(PCCB):c.1498+2T>C rs879253816
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.183+5G>A rs879253813
NM_000532.5(PCCB):c.372+2T>C rs879253814
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter) rs863225262
NM_000709.4(BCKDHA):c.470A>C (p.Gln157Pro) rs869312125
NM_000709.4(BCKDHA):c.844G>C (p.Asp282His) rs869312124
NM_001032221.6(STXBP1):c.898del (p.Ser300fs) rs2131481907
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs) rs587776895
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) rs398123585
NM_001165963.4(SCN1A):c.765_766del (p.Phe256fs) rs886041961
NM_001199397.3(NEK1):c.213del (p.Glu72fs) rs2150139071
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) rs886039323
NM_001318975.1(BCKDHB):c.-70_-15+207del rs1554180622
NM_001918.5(DBT):c.1033G>A (p.Gly345Arg) rs869312132
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter) rs1555191598
NM_004625.4:c.(71+1_72-1)_(298+1_299-1)del
NM_004855.5(PIGB):c.847-10A>G rs779296101
NM_005518.4(HMGCS2):c.1394del (p.Asn465fs) rs779321975
NM_018896.5(CACNA1G):c.2881G>A (p.Ala961Thr) rs886041505
NM_052845.4(MMAB):c.2T>C (p.Met1Thr) rs869320655
NM_052845.4(MMAB):c.563T>G (p.Val188Gly) rs869320654
NM_147127.5(EVC2):c.826_827del (p.Gln276fs) rs758841632
NM_153766.3(KCNJ1):c.514A>C (p.Thr172Pro)
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) rs886041262
NM_172250.3(MMAA):c.1025T>G (p.Met342Arg) rs869320657
NM_172250.3(MMAA):c.562+1G>A rs869320656
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn) rs796051939
NM_183050.4(BCKDHB):c.1065del (p.Pro356fs) rs869312129
NM_183050.4(BCKDHB):c.197-2A>G rs869312127
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly) rs869312126
NM_183050.4(BCKDHB):c.3G>A (p.Met1Ile) rs869312128
NM_183050.4(BCKDHB):c.401T>A (p.Ile134Asn) rs869312130
NM_183050.4(BCKDHB):c.964A>G (p.Thr322Ala) rs869312131

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