ClinVar Miner

List of variants studied for Fumarase deficiency by Baylor Genetics

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Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.4T>C (p.Tyr2His) rs112335468 0.00023
NM_000143.4(FH):c.7C>G (p.Arg3Gly) rs202166344 0.00022
NM_000143.4(FH):c.1303G>A (p.Val435Met) rs147528200 0.00021
NM_000143.4(FH):c.217G>A (p.Val73Met) rs201878591 0.00010
NM_000143.4(FH):c.259C>T (p.Arg87Cys) rs139642944 0.00006
NM_000143.4(FH):c.35G>T (p.Arg12Leu) rs367826177 0.00006
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_000143.4(FH):c.1421C>G (p.Thr474Arg) rs369802820 0.00004
NM_000143.4(FH):c.302G>A (p.Arg101Gln) rs75086406 0.00004
NM_000143.4(FH):c.346A>T (p.Ile116Phe) rs201532589 0.00004
NM_000143.4(FH):c.580G>A (p.Ala194Thr) rs587782215 0.00004
NM_000143.4(FH):c.917T>C (p.Val306Ala) rs147991516 0.00004
NM_000143.4(FH):c.1462G>A (p.Glu488Lys) rs201115573 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000143.4(FH):c.616G>A (p.Val206Ile) rs763183520 0.00003
NM_000143.4(FH):c.698G>A (p.Arg233His) rs121913123 0.00003
NM_000143.4(FH):c.1049G>A (p.Arg350Gln) rs749316923 0.00002
NM_000143.4(FH):c.116C>T (p.Pro39Leu) rs1415259326 0.00002
NM_000143.4(FH):c.260G>A (p.Arg87His) rs200007371 0.00002
NM_000143.4(FH):c.358A>G (p.Ile120Val) rs199641124 0.00002
NM_000143.4(FH):c.65T>G (p.Leu22Ter) rs1031919395 0.00002
NM_000143.4(FH):c.797T>C (p.Met266Thr) rs764648497 0.00002
NM_000143.4(FH):c.925C>T (p.Pro309Ser) rs368849989 0.00002
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) rs398123159 0.00001
NM_000143.4(FH):c.1048C>T (p.Arg350Trp) rs755436052 0.00001
NM_000143.4(FH):c.1189G>A (p.Gly397Arg) rs863224007 0.00001
NM_000143.4(FH):c.1195A>G (p.Ser399Gly) rs1372936109 0.00001
NM_000143.4(FH):c.1204C>T (p.His402Tyr) rs760360724 0.00001
NM_000143.4(FH):c.127C>G (p.Arg43Gly) rs200496951 0.00001
NM_000143.4(FH):c.1405G>A (p.Ala469Thr) rs1060500906 0.00001
NM_000143.4(FH):c.1408A>G (p.Lys470Glu) rs922905323 0.00001
NM_000143.4(FH):c.1433A>G (p.Asn478Ser) rs201886827 0.00001
NM_000143.4(FH):c.1501G>A (p.Val501Ile) rs201893992 0.00001
NM_000143.4(FH):c.190A>G (p.Asn64Asp) rs886046319 0.00001
NM_000143.4(FH):c.194A>G (p.Asp65Gly) rs145116688 0.00001
NM_000143.4(FH):c.208G>A (p.Ala70Thr) rs587782207 0.00001
NM_000143.4(FH):c.227C>T (p.Thr76Met) rs778578307 0.00001
NM_000143.4(FH):c.26C>G (p.Ala9Gly) rs766915154 0.00001
NM_000143.4(FH):c.301C>T (p.Arg101Ter) rs121913120 0.00001
NM_000143.4(FH):c.317T>C (p.Val106Ala) rs1382226356 0.00001
NM_000143.4(FH):c.31T>C (p.Ser11Pro) rs1660323255 0.00001
NM_000143.4(FH):c.412C>G (p.Leu138Val) rs1466082062 0.00001
NM_000143.4(FH):c.415G>A (p.Val139Met) rs200343823 0.00001
NM_000143.4(FH):c.417G>A (p.Val139=) rs768341401 0.00001
NM_000143.4(FH):c.431G>A (p.Gly144Glu) rs1057521425 0.00001
NM_000143.4(FH):c.514A>G (p.Lys172Glu) rs201154463 0.00001
NM_000143.4(FH):c.553_554insTG (p.Gln185fs) rs768182640 0.00001
NM_000143.4(FH):c.5A>G (p.Tyr2Cys) rs1553342167 0.00001
NM_000143.4(FH):c.697C>T (p.Arg233Cys) rs587781682 0.00001
NM_000143.4(FH):c.700A>G (p.Thr234Ala) rs372505976 0.00001
NM_000143.4(FH):c.784A>G (p.Ile262Val) rs199829765 0.00001
NM_000143.4(FH):c.853A>G (p.Thr285Ala) rs200791185 0.00001
NM_000143.4(FH):c.909G>C (p.Leu303Phe) rs1659857850 0.00001
NM_000143.4(FH):c.923C>G (p.Ala308Gly) rs1057524385 0.00001
NM_000143.4(FH):c.986A>G (p.Asn329Ser) rs768483509 0.00001
NM_000143.4(FH):c.1025T>C (p.Ile342Thr) rs201383596
NM_000143.4(FH):c.1027C>T (p.Arg343Ter) rs121913122
NM_000143.4(FH):c.1030T>C (p.Phe344Leu)
NM_000143.4(FH):c.1051T>G (p.Ser351Ala) rs766918221
NM_000143.4(FH):c.1069A>G (p.Ile357Val) rs1027877625
NM_000143.4(FH):c.1083_1086del (p.Glu362fs) rs756469140
NM_000143.4(FH):c.1097G>A (p.Ser366Asn) rs863224004
NM_000143.4(FH):c.1209del (p.Phe403fs) rs1060499644
NM_000143.4(FH):c.1218T>A (p.Asn406Lys)
NM_000143.4(FH):c.1235T>C (p.Met412Thr)
NM_000143.4(FH):c.1274A>T (p.Asp425Val) rs1038324354
NM_000143.4(FH):c.1276G>A (p.Ala426Thr)
NM_000143.4(FH):c.127C>T (p.Arg43Ter) rs200496951
NM_000143.4(FH):c.1290del (p.Phe430fs)
NM_000143.4(FH):c.1292C>T (p.Thr431Ile) rs201005880
NM_000143.4(FH):c.1293del (p.Glu432fs) rs398123163
NM_000143.4(FH):c.1370_1371insTCAC (p.Ala458fs) rs863223992
NM_000143.4(FH):c.1390+1G>T rs886039367
NM_000143.4(FH):c.1390+2T>C rs1558396285
NM_000143.4(FH):c.1390+3_1390+6del
NM_000143.4(FH):c.1391-1G>C rs863223978
NM_000143.4(FH):c.1391-1G>T
NM_000143.4(FH):c.1391-2A>T rs863224008
NM_000143.4(FH):c.1415C>T (p.Ala472Val) rs765643179
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.1445T>G (p.Leu482Ter) rs1064796708
NM_000143.4(FH):c.1459A>G (p.Ile487Val) rs1391195810
NM_000143.4(FH):c.1474C>G (p.Leu492Val) rs1659663430
NM_000143.4(FH):c.1475_1476del (p.Leu492fs) rs886041201
NM_000143.4(FH):c.1483G>T (p.Glu495Ter)
NM_000143.4(FH):c.148T>C (p.Phe50Leu) rs1558402284
NM_000143.4(FH):c.1493A>G (p.Asp498Gly)
NM_000143.4(FH):c.16C>G (p.Arg6Gly)
NM_000143.4(FH):c.194A>T (p.Asp65Val) rs145116688
NM_000143.4(FH):c.239dup (p.Ile81fs) rs1553341942
NM_000143.4(FH):c.265C>T (p.Pro89Ser)
NM_000143.4(FH):c.29_32delinsTT (p.Arg10fs)
NM_000143.4(FH):c.32C>A (p.Ser11Ter)
NM_000143.4(FH):c.337del (p.Asp113fs)
NM_000143.4(FH):c.354T>G (p.Asn118Lys) rs1465574376
NM_000143.4(FH):c.378+1G>A rs1660143675
NM_000143.4(FH):c.40_41insG (p.Leu14fs)
NM_000143.4(FH):c.40dup (p.Leu14fs) rs1060500900
NM_000143.4(FH):c.490del (p.Met164fs)
NM_000143.4(FH):c.504del (p.Glu168fs) rs776190273
NM_000143.4(FH):c.509G>A (p.Gly170Asp) rs1573885360
NM_000143.4(FH):c.555+1G>A rs1375252870
NM_000143.4(FH):c.555+4A>G rs776240700
NM_000143.4(FH):c.557G>A (p.Ser186Asn) rs587782618
NM_000143.4(FH):c.563del (p.Asn188fs) rs1131691248
NM_000143.4(FH):c.602T>C (p.Ile201Thr) rs1476664795
NM_000143.4(FH):c.610C>A (p.His204Asn) rs863223996
NM_000143.4(FH):c.658_659delinsTT (p.Ala220Leu) rs1060500893
NM_000143.4(FH):c.65T>A (p.Leu22Ter) rs1031919395
NM_000143.4(FH):c.668_669del (p.Lys223fs) rs886039364
NM_000143.4(FH):c.680A>G (p.Gln227Arg)
NM_000143.4(FH):c.689A>G (p.Lys230Arg) rs752232718
NM_000143.4(FH):c.6C>G (p.Tyr2Ter) rs199971078
NM_000143.4(FH):c.733G>A (p.Gly245Arg) rs1287444534
NM_000143.4(FH):c.734G>A (p.Gly245Glu)
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del) rs786202220
NM_000143.4(FH):c.7C>T (p.Arg3Ter) rs202166344
NM_000143.4(FH):c.807C>G (p.Ile269Met)
NM_000143.4(FH):c.820G>C (p.Ala274Pro) rs1060499638
NM_000143.4(FH):c.839del (p.Gly280fs)
NM_000143.4(FH):c.862G>A (p.Gly288Ser)
NM_000143.4(FH):c.874A>C (p.Lys292Gln) rs771087739
NM_000143.4(FH):c.877G>A (p.Val293Ile) rs749029092
NM_000143.4(FH):c.904+2dup rs1573881536
NM_000143.4(FH):c.905-1G>A rs797044973
NM_000143.4(FH):c.911C>G (p.Pro304Arg) rs200491078
NM_000143.4(FH):c.912_918del (p.Phe305fs) rs794727836
NM_000143.4(FH):c.952C>T (p.His318Tyr) rs398123168
NM_000143.4(FH):c.968A>G (p.Glu323Gly)

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