ClinVar Miner

List of variants in gene H6PD studied for not provided

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Gene type:
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Total variants: 162
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HGVS dbSNP gnomAD frequency
NM_004285.4(H6PD):c.2019T>C (p.Tyr673=) rs9434742 0.42000
NM_004285.4(H6PD):c.2118A>G (p.Ser706=) rs9434743 0.41917
NM_004285.4(H6PD):c.1358G>A (p.Arg453Gln) rs6688832 0.30935
NM_004285.4(H6PD):c.741T>C (p.Ala247=) rs11121350 0.25452
NM_004285.4(H6PD):c.745+88T>A rs12032814 0.23253
NM_004285.4(H6PD):c.636G>A (p.Ala212=) rs7524046 0.20778
NM_004285.4(H6PD):c.452A>C (p.Asp151Ala) rs34603401 0.10353
NM_004285.4(H6PD):c.1661C>T (p.Pro554Leu) rs17368528 0.08654
NM_004285.4(H6PD):c.1398C>T (p.Phe466=) rs35301166 0.02011
NM_004285.4(H6PD):c.1011C>T (p.Phe337=) rs76029483 0.01594
NM_004285.4(H6PD):c.1734C>T (p.Ala578=) rs78281451 0.01590
NM_004285.4(H6PD):c.927C>T (p.Val309=) rs61745592 0.01205
NM_004285.4(H6PD):c.783C>T (p.Arg261=) rs149778702 0.01072
NM_004285.4(H6PD):c.678C>T (p.Asp226=) rs36094664 0.00935
NM_004285.4(H6PD):c.1450A>G (p.Asn484Asp) rs35404275 0.00896
NM_004285.4(H6PD):c.186C>T (p.Phe62=) rs116196265 0.00817
NM_004285.4(H6PD):c.679G>A (p.Gly227Ser) rs142080875 0.00817
NM_004285.4(H6PD):c.771C>T (p.Tyr257=) rs116403427 0.00704
NM_004285.4(H6PD):c.1725T>C (p.Ala575=) rs116493689 0.00381
NM_004285.4(H6PD):c.1053C>T (p.Gly351=) rs34448374 0.00319
NM_004285.4(H6PD):c.653G>A (p.Arg218Gln) rs35525021 0.00311
NM_004285.4(H6PD):c.635C>T (p.Ala212Val) rs143104068 0.00293
NM_004285.4(H6PD):c.1333G>A (p.Asp445Asn) rs148535734 0.00224
NM_004285.4(H6PD):c.1842G>A (p.Thr614=) rs150373672 0.00188
NM_004285.4(H6PD):c.1004C>T (p.Pro335Leu) rs140631516 0.00180
NM_004285.4(H6PD):c.664C>T (p.Arg222Cys) rs141948836 0.00178
NM_004285.4(H6PD):c.746-4631C>T rs142259111 0.00157
NM_004285.4(H6PD):c.1342G>A (p.Ala448Thr) rs34580447 0.00150
NM_004285.4(H6PD):c.1161C>T (p.Ala387=) rs115109857 0.00143
NM_004285.4(H6PD):c.255C>T (p.Ser85=) rs138775586 0.00140
NM_004285.4(H6PD):c.400C>T (p.Arg134Trp) rs139416629 0.00130
NM_004285.4(H6PD):c.1786G>A (p.Val596Met) rs200978401 0.00122
NM_004285.4(H6PD):c.1933C>T (p.Arg645Trp) rs146595089 0.00074
NM_004285.4(H6PD):c.1343C>T (p.Ala448Val) rs147962990 0.00067
NM_004285.4(H6PD):c.2088C>T (p.Asp696=) rs113214943 0.00058
NM_004285.4(H6PD):c.822C>T (p.Leu274=) rs145706807 0.00058
NM_004285.4(H6PD):c.1164G>A (p.Ala388=) rs139280233 0.00056
NM_004285.4(H6PD):c.342C>T (p.Ala114=) rs138024142 0.00046
NM_004285.4(H6PD):c.539A>G (p.His180Arg) rs146976758 0.00039
NM_004285.4(H6PD):c.1163C>T (p.Ala388Val) rs149231638 0.00035
NM_004285.4(H6PD):c.2268G>A (p.Thr756=) rs144766765 0.00026
NM_004285.4(H6PD):c.924C>T (p.Ala308=) rs139444060 0.00026
NM_004285.4(H6PD):c.1556G>A (p.Arg519Gln) rs199945510 0.00025
NM_004285.4(H6PD):c.2267C>T (p.Thr756Met) rs201296526 0.00024
NM_004285.4(H6PD):c.961C>T (p.Arg321Cys) rs375504656 0.00024
NM_004285.4(H6PD):c.2164C>T (p.Pro722Ser) rs144508545 0.00020
NM_004285.4(H6PD):c.1187G>A (p.Arg396Gln) rs35511555 0.00016
NM_004285.4(H6PD):c.1438C>T (p.Leu480=) rs368731085 0.00016
NM_004285.4(H6PD):c.422A>G (p.Tyr141Cys) rs144456985 0.00016
NM_004285.4(H6PD):c.1233C>T (p.Ala411=) rs139332011 0.00015
NM_004285.4(H6PD):c.1531T>C (p.Leu511=) rs148254107 0.00014
NM_004285.4(H6PD):c.1090G>A (p.Glu364Lys) rs146809075 0.00012
NM_004285.4(H6PD):c.1662G>A (p.Pro554=) rs369428059 0.00012
NM_004285.4(H6PD):c.1195G>A (p.Val399Ile) rs369125646 0.00011
NM_004285.4(H6PD):c.1723G>A (p.Ala575Thr) rs149313646 0.00010
NM_004285.4(H6PD):c.1147G>A (p.Glu383Lys) rs768856168 0.00009
NM_004285.4(H6PD):c.1043G>A (p.Arg348His) rs149463138 0.00008
NM_004285.4(H6PD):c.948C>G (p.Tyr316Ter) rs398122817 0.00008
NM_004285.4(H6PD):c.1318G>A (p.Gly440Ser) rs34274595 0.00007
NM_004285.4(H6PD):c.2053A>G (p.Ser685Gly) rs780275357 0.00007
NM_004285.4(H6PD):c.628-9C>G rs371552057 0.00007
NM_004285.4(H6PD):c.1119C>T (p.Phe373=) rs367995382 0.00005
NM_004285.4(H6PD):c.1814C>T (p.Ala605Val) rs371242953 0.00004
NM_004285.4(H6PD):c.1952T>G (p.Ile651Ser) rs747430471 0.00004
NM_004285.4(H6PD):c.2159C>T (p.Thr720Met) rs373231848 0.00004
NM_004285.4(H6PD):c.2216C>T (p.Ala739Val) rs202198675 0.00004
NM_004285.4(H6PD):c.516T>C (p.Leu172=) rs895202163 0.00004
NM_004285.4(H6PD):c.751A>G (p.Thr251Ala) rs967443477 0.00003
NM_004285.4(H6PD):c.326G>A (p.Arg109His) rs752399331 0.00002
NM_004285.4(H6PD):c.1194C>T (p.Leu398=) rs112859991 0.00001
NM_004285.4(H6PD):c.1989C>T (p.Cys663=) rs148819706 0.00001
NM_004285.4(H6PD):c.2059G>A (p.Asp687Asn) rs538464231 0.00001
NC_000001.10:g.(?_9322098)_(9324928_?)dup
NM_004285.4(H6PD):c.1001C>T (p.Thr334Met)
NM_004285.4(H6PD):c.1005G>A (p.Pro335=)
NM_004285.4(H6PD):c.1015+7C>T
NM_004285.4(H6PD):c.1016-19T>C
NM_004285.4(H6PD):c.1017C>T (p.Ala339=)
NM_004285.4(H6PD):c.1039C>T (p.Leu347Phe)
NM_004285.4(H6PD):c.1074T>C (p.Ser358=)
NM_004285.4(H6PD):c.1084T>C (p.Leu362=)
NM_004285.4(H6PD):c.1086G>A (p.Leu362=)
NM_004285.4(H6PD):c.1156T>C (p.Trp386Arg)
NM_004285.4(H6PD):c.1167G>A (p.Ala389=)
NM_004285.4(H6PD):c.1178G>T (p.Cys393Phe)
NM_004285.4(H6PD):c.1207G>A (p.Gly403Ser)
NM_004285.4(H6PD):c.1227C>T (p.Ser409=) rs1475306702
NM_004285.4(H6PD):c.1234G>A (p.Val412Met) rs201017402
NM_004285.4(H6PD):c.1309C>T (p.Arg437Cys)
NM_004285.4(H6PD):c.1310G>A (p.Arg437His)
NM_004285.4(H6PD):c.1320C>T (p.Gly440=)
NM_004285.4(H6PD):c.1365G>A (p.Arg455=)
NM_004285.4(H6PD):c.1368C>T (p.Asp456=)
NM_004285.4(H6PD):c.1377C>T (p.Ser459=)
NM_004285.4(H6PD):c.1406G>A (p.Arg469Gln)
NM_004285.4(H6PD):c.1454del (p.Phe485fs) rs1638442651
NM_004285.4(H6PD):c.1496G>A (p.Arg499His)
NM_004285.4(H6PD):c.1526G>A (p.Arg509His)
NM_004285.4(H6PD):c.1551C>T (p.Ser517=)
NM_004285.4(H6PD):c.1552G>A (p.Gly518Ser)
NM_004285.4(H6PD):c.1555C>T (p.Arg519Trp)
NM_004285.4(H6PD):c.1581G>A (p.Pro527=)
NM_004285.4(H6PD):c.1603G>C (p.Gly535Arg)
NM_004285.4(H6PD):c.1608G>A (p.Pro536=)
NM_004285.4(H6PD):c.161C>T (p.Ala54Val)
NM_004285.4(H6PD):c.1631A>G (p.Gln544Arg)
NM_004285.4(H6PD):c.1641G>A (p.Arg547=)
NM_004285.4(H6PD):c.1651C>A (p.Arg551=) rs760131543
NM_004285.4(H6PD):c.1655A>G (p.Glu552Gly)
NM_004285.4(H6PD):c.1681G>C (p.Glu561Gln)
NM_004285.4(H6PD):c.1730G>A (p.Arg577Gln)
NM_004285.4(H6PD):c.1745_1766del (p.Phe582fs)
NM_004285.4(H6PD):c.1770G>A (p.Ser590=) rs149851560
NM_004285.4(H6PD):c.1770G>T (p.Ser590=) rs149851560
NM_004285.4(H6PD):c.1775G>A (p.Gly592Asp)
NM_004285.4(H6PD):c.1812G>A (p.Thr604=)
NM_004285.4(H6PD):c.1881A>G (p.Ser627=)
NM_004285.4(H6PD):c.1929C>T (p.His643=)
NM_004285.4(H6PD):c.1930G>A (p.Val644Ile)
NM_004285.4(H6PD):c.1960A>C (p.Met654Leu)
NM_004285.4(H6PD):c.1972C>A (p.Leu658Met)
NM_004285.4(H6PD):c.1990G>A (p.Ala664Thr)
NM_004285.4(H6PD):c.1992C>T (p.Ala664=)
NM_004285.4(H6PD):c.1993G>A (p.Glu665Lys)
NM_004285.4(H6PD):c.2007C>T (p.Gly669=)
NM_004285.4(H6PD):c.2058C>T (p.Phe686=)
NM_004285.4(H6PD):c.2066T>A (p.Val689Glu)
NM_004285.4(H6PD):c.2085C>T (p.Ala695=)
NM_004285.4(H6PD):c.2096C>T (p.Thr699Ile)
NM_004285.4(H6PD):c.2136C>T (p.Gly712=)
NM_004285.4(H6PD):c.2137G>A (p.Glu713Lys)
NM_004285.4(H6PD):c.2160G>A (p.Thr720=)
NM_004285.4(H6PD):c.217G>C (p.Gly73Arg)
NM_004285.4(H6PD):c.2180G>A (p.Arg727His)
NM_004285.4(H6PD):c.2325G>A (p.Pro775=)
NM_004285.4(H6PD):c.2331C>T (p.Ser777=)
NM_004285.4(H6PD):c.316A>G (p.Ser106Gly)
NM_004285.4(H6PD):c.343G>A (p.Glu115Lys)
NM_004285.4(H6PD):c.415A>G (p.Ile139Val)
NM_004285.4(H6PD):c.628-14T>C
NM_004285.4(H6PD):c.628-6del
NM_004285.4(H6PD):c.628-6dup
NM_004285.4(H6PD):c.628-7C>G rs199892963
NM_004285.4(H6PD):c.628-7C>T
NM_004285.4(H6PD):c.628-8C>G rs4601607
NM_004285.4(H6PD):c.628-8C>T rs4601607
NM_004285.4(H6PD):c.628-9C>A rs371552057
NM_004285.4(H6PD):c.652C>T (p.Arg218Ter)
NM_004285.4(H6PD):c.692G>A (p.Arg231Gln)
NM_004285.4(H6PD):c.732C>A (p.Thr244=) rs118005430
NM_004285.4(H6PD):c.732C>T (p.Thr244=) rs118005430
NM_004285.4(H6PD):c.745+19G>A
NM_004285.4(H6PD):c.748C>T (p.Arg250Cys)
NM_004285.4(H6PD):c.749G>A (p.Arg250His)
NM_004285.4(H6PD):c.786C>T (p.Asp262=)
NM_004285.4(H6PD):c.80C>T (p.Ser27Phe)
NM_004285.4(H6PD):c.871C>T (p.Arg291Trp)
NM_004285.4(H6PD):c.901C>T (p.Arg301Trp) rs150901527
NM_004285.4(H6PD):c.902G>A (p.Arg301Gln)
NM_004285.4(H6PD):c.906C>T (p.Gly302=)
NM_004285.4(H6PD):c.916G>A (p.Gly306Ser)
NM_004285.4(H6PD):c.984C>T (p.Asp328=)

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