ClinVar Miner

List of variants in gene SLC4A1 reported as uncertain significance for familial hemolytic anemia

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 198
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HGVS dbSNP gnomAD frequency
NM_000342.4(SLC4A1):c.*353G>C rs571581247 0.00093
NM_000342.4(SLC4A1):c.615T>C (p.Asp205=) rs5038 0.00070
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) rs28931583 0.00054
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759 0.00051
NM_000342.4(SLC4A1):c.*1676A>G rs745898810 0.00034
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp) rs201265160 0.00031
NM_000342.4(SLC4A1):c.1151G>A (p.Arg384His) rs13306776 0.00026
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys) rs75731670 0.00024
NM_000342.4(SLC4A1):c.277G>T (p.Ala93Ser) rs145054469 0.00017
NM_000342.4(SLC4A1):c.*544C>T rs910311843 0.00016
NM_000342.4(SLC4A1):c.1671G>A (p.Val557=) rs147838240 0.00016
NM_000342.4(SLC4A1):c.*1273G>T rs769140134 0.00015
NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr) rs142905862 0.00015
NM_000342.3(SLC4A1):c.268G>A (p.Glu90Lys) rs28929480 0.00013
NM_000342.4(SLC4A1):c.876+14G>A rs571092411 0.00013
NM_000342.4(SLC4A1):c.*1409T>C rs891382961 0.00009
NM_000342.4(SLC4A1):c.1759A>T (p.Met587Leu) rs201228206 0.00009
NM_000342.4(SLC4A1):c.2057C>T (p.Thr686Met) rs143131877 0.00009
NM_000342.4(SLC4A1):c.523C>A (p.Pro175Thr) rs201611359 0.00007
NM_000342.4(SLC4A1):c.*1198A>T rs886052992 0.00006
NM_000342.4(SLC4A1):c.*1305G>A rs566138996 0.00006
NM_000342.4(SLC4A1):c.*1393A>T rs139308660 0.00006
NM_000342.4(SLC4A1):c.2625G>A (p.Pro875=) rs202243808 0.00006
NM_000342.4(SLC4A1):c.2630T>C (p.Ile877Thr) rs765911147 0.00006
NM_000342.4(SLC4A1):c.454G>A (p.Glu152Lys) rs55840505 0.00006
NM_000342.4(SLC4A1):c.985G>A (p.Glu329Lys) rs141370158 0.00006
NM_000342.4(SLC4A1):c.*431T>C rs951207868 0.00005
NM_000342.4(SLC4A1):c.*977G>A rs886052993 0.00005
NM_000342.4(SLC4A1):c.2193C>T (p.Ser731=) rs754017629 0.00005
NM_000342.4(SLC4A1):c.706T>G (p.Phe236Val) rs141605301 0.00005
NM_000342.3(SLC4A1):c.388G>A (p.Gly130Arg) rs121912749 0.00004
NM_000342.4(SLC4A1):c.*1596A>C rs886052990 0.00004
NM_000342.4(SLC4A1):c.*54A>G rs758901858 0.00004
NM_000342.4(SLC4A1):c.1160G>A (p.Arg387Gln) rs201280873 0.00004
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) rs121912757 0.00004
NM_000342.4(SLC4A1):c.2208C>T (p.Asn736=) rs766674440 0.00004
NM_000342.4(SLC4A1):c.719C>T (p.Pro240Leu) rs764833865 0.00004
NM_000342.4(SLC4A1):c.1431+15G>T rs886052999 0.00003
NM_000342.4(SLC4A1):c.2401A>C (p.Ser801Arg) rs775095594 0.00003
NM_000342.4(SLC4A1):c.538C>T (p.Arg180Cys) rs749020872 0.00003
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val) rs571740084 0.00003
NM_000342.4(SLC4A1):c.877-3dup rs747181893 0.00003
NM_000342.3(SLC4A1):c.-62G>A rs387906565 0.00002
NM_000342.4(SLC4A1):c.*1766C>T rs896817763 0.00002
NM_000342.4(SLC4A1):c.*351G>T rs138242019 0.00002
NM_000342.4(SLC4A1):c.2002G>A (p.Ala668Thr) rs368353943 0.00002
NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys) rs13306787 0.00002
NM_000342.4(SLC4A1):c.2204C>T (p.Ala735Val) rs748087778 0.00002
NM_000342.4(SLC4A1):c.2547G>A (p.Val849=) rs753357599 0.00002
NM_000342.4(SLC4A1):c.2702G>A (p.Arg901Gln) rs189300762 0.00002
NM_000342.4(SLC4A1):c.464G>A (p.Arg155Gln) rs750879183 0.00002
NM_000342.4(SLC4A1):c.486-10C>T rs376999476 0.00002
NM_000342.4(SLC4A1):c.672A>G (p.Ser224=) rs772317162 0.00002
NM_000342.4(SLC4A1):c.697C>T (p.Arg233Cys) rs779054292 0.00002
NM_000342.4(SLC4A1):c.826A>G (p.Ile276Val) rs746406399 0.00002
NM_000342.4(SLC4A1):c.*1832G>A rs886052988 0.00001
NM_000342.4(SLC4A1):c.*356G>C rs1046413791 0.00001
NM_000342.4(SLC4A1):c.*5C>T rs748428663 0.00001
NM_000342.4(SLC4A1):c.*624G>A rs988105334 0.00001
NM_000342.4(SLC4A1):c.-65C>A rs886053001 0.00001
NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro) rs768426818 0.00001
NM_000342.4(SLC4A1):c.1225G>A (p.Val409Ile) rs201821517 0.00001
NM_000342.4(SLC4A1):c.1471G>A (p.Val491Met) rs757478694 0.00001
NM_000342.4(SLC4A1):c.1480G>A (p.Gly494Ser) rs751771382 0.00001
NM_000342.4(SLC4A1):c.1669G>A (p.Val557Met) rs121912743 0.00001
NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys) rs368863744 0.00001
NM_000342.4(SLC4A1):c.1928C>T (p.Ser643Phe) rs763988041 0.00001
NM_000342.4(SLC4A1):c.1971C>T (p.Ser657=) rs200107906 0.00001
NM_000342.4(SLC4A1):c.2035T>C (p.Phe679Leu) rs776831481 0.00001
NM_000342.4(SLC4A1):c.2149G>A (p.Ala717Thr) rs750490778 0.00001
NM_000342.4(SLC4A1):c.2185G>A (p.Val729Met) rs775748758 0.00001
NM_000342.4(SLC4A1):c.2387G>C (p.Gly796Ala) rs766885976 0.00001
NM_000342.4(SLC4A1):c.2482-9C>T rs886052995 0.00001
NM_000342.4(SLC4A1):c.2612G>A (p.Arg871His) rs781396793 0.00001
NM_000342.4(SLC4A1):c.2614G>A (p.Val872Ile) rs747337202 0.00001
NM_000342.4(SLC4A1):c.2656C>A (p.Leu886Met) rs150340150 0.00001
NM_000342.4(SLC4A1):c.567C>G (p.Leu189=) rs746103796 0.00001
NM_000342.4(SLC4A1):c.604G>A (p.Glu202Lys) rs879205711 0.00001
NM_000342.4(SLC4A1):c.636A>G (p.Ser212=) rs886053000 0.00001
NM_000342.4(SLC4A1):c.695-3C>A rs772264078 0.00001
NM_000342.4(SLC4A1):c.829G>A (p.Asp277Asn) rs138288425 0.00001
NM_000342.4(SLC4A1):c.*1032C>T rs557549888
NM_000342.4(SLC4A1):c.*1047T>C rs2047320056
NM_000342.4(SLC4A1):c.*1316C>T rs886052991
NM_000342.4(SLC4A1):c.*1609C>T rs1039193295
NM_000342.4(SLC4A1):c.*1693G>A rs2047314555
NM_000342.4(SLC4A1):c.*1791C>T rs941106311
NM_000342.4(SLC4A1):c.*265A>C rs2047325817
NM_000342.4(SLC4A1):c.*649G>A rs1054653641
NM_000342.4(SLC4A1):c.*701C>G rs13306779
NM_000342.4(SLC4A1):c.*745G>A rs1174269872
NM_000342.4(SLC4A1):c.*753C>T rs763961316
NM_000342.4(SLC4A1):c.*872G>C rs886052994
NM_000342.4(SLC4A1):c.*936G>T rs1051135906
NM_000342.4(SLC4A1):c.*984T>G rs878998198
NM_000342.4(SLC4A1):c.-59G>T rs2047459963
NM_000342.4(SLC4A1):c.1040A>C (p.Tyr347Ser)
NM_000342.4(SLC4A1):c.1043A>C (p.Gln348Pro)
NM_000342.4(SLC4A1):c.107-14C>A
NM_000342.4(SLC4A1):c.1103C>T (p.Pro368Leu)
NM_000342.4(SLC4A1):c.1127G>A (p.Gly376Asp)
NM_000342.4(SLC4A1):c.112G>A (p.Asp38Asn)
NM_000342.4(SLC4A1):c.1150C>T (p.Arg384Cys)
NM_000342.4(SLC4A1):c.1172C>T (p.Pro391Leu)
NM_000342.4(SLC4A1):c.1179C>T (p.Tyr393=) rs2047406551
NM_000342.4(SLC4A1):c.1202T>G (p.Phe401Cys) rs141751197
NM_000342.4(SLC4A1):c.1204A>G (p.Ser402Gly)
NM_000342.4(SLC4A1):c.1273G>A (p.Gly425Ser)
NM_000342.4(SLC4A1):c.1294C>T (p.Arg432Trp)
NM_000342.4(SLC4A1):c.1318C>G (p.Leu440Val)
NM_000342.4(SLC4A1):c.1319T>A (p.Leu440Gln) rs2144613306
NM_000342.4(SLC4A1):c.1331C>A (p.Thr444Asn) rs754973425
NM_000342.4(SLC4A1):c.1331C>G (p.Thr444Ser) rs754973425
NM_000342.4(SLC4A1):c.1337T>C (p.Val446Ala)
NM_000342.4(SLC4A1):c.1421C>G (p.Ala474Gly)
NM_000342.4(SLC4A1):c.1430C>T (p.Ser477Leu)
NM_000342.4(SLC4A1):c.143C>T (p.Thr48Ile)
NM_000342.4(SLC4A1):c.1442C>G (p.Thr481Ser)
NM_000342.4(SLC4A1):c.1492A>C (p.Ile498Leu)
NM_000342.4(SLC4A1):c.1501G>A (p.Val501Met)
NM_000342.4(SLC4A1):c.1507T>G (p.Leu503Val)
NM_000342.4(SLC4A1):c.1513G>A (p.Val505Met)
NM_000342.4(SLC4A1):c.1514T>A (p.Val505Glu)
NM_000342.4(SLC4A1):c.1515G>A (p.Val505=)
NM_000342.4(SLC4A1):c.1530C>G (p.Ser510Arg) rs1567831936
NM_000342.4(SLC4A1):c.1541G>A (p.Arg514His) rs745839527
NM_000342.4(SLC4A1):c.1553G>A (p.Arg518His)
NM_000342.4(SLC4A1):c.161C>T (p.Thr54Ile)
NM_000342.4(SLC4A1):c.1626+7G>A rs765327742
NM_000342.4(SLC4A1):c.1642C>A (p.Pro548Thr)
NM_000342.4(SLC4A1):c.1737C>A (p.Ala579=)
NM_000342.4(SLC4A1):c.1780A>T (p.Ser594Cys)
NM_000342.4(SLC4A1):c.1782C>G (p.Ser594Arg)
NM_000342.4(SLC4A1):c.1800+3C>G
NM_000342.4(SLC4A1):c.1807C>T (p.Arg603Trp)
NM_000342.4(SLC4A1):c.1819G>A (p.Asp607Asn) rs2144606989
NM_000342.4(SLC4A1):c.1890+7C>T
NM_000342.4(SLC4A1):c.1891-10C>T
NM_000342.4(SLC4A1):c.1940G>A (p.Gly647Asp)
NM_000342.4(SLC4A1):c.2019G>A (p.Leu673=) rs2047371426
NM_000342.4(SLC4A1):c.2020G>A (p.Val674Ile)
NM_000342.4(SLC4A1):c.2032A>C (p.Ile678Leu)
NM_000342.4(SLC4A1):c.2058-16C>A
NM_000342.4(SLC4A1):c.2089G>T (p.Val697Phe)
NM_000342.4(SLC4A1):c.2116C>A (p.Leu706Met)
NM_000342.4(SLC4A1):c.2131G>A (p.Gly711Ser)
NM_000342.4(SLC4A1):c.217C>A (p.Leu73Met)
NM_000342.4(SLC4A1):c.2194G>A (p.Val732Ile)
NM_000342.4(SLC4A1):c.2243G>A (p.Gly748Glu) rs886052996
NM_000342.4(SLC4A1):c.2252C>T (p.Ala751Val)
NM_000342.4(SLC4A1):c.2312G>T (p.Gly771Val) rs121912741
NM_000342.4(SLC4A1):c.2326A>G (p.Met776Val)
NM_000342.4(SLC4A1):c.2344C>T (p.Arg782Cys) rs148317876
NM_000342.4(SLC4A1):c.2345G>A (p.Arg782His)
NM_000342.4(SLC4A1):c.239G>C (p.Arg80Pro)
NM_000342.4(SLC4A1):c.2404G>A (p.Gly802Ser)
NM_000342.4(SLC4A1):c.2416T>C (p.Phe806Leu)
NM_000342.4(SLC4A1):c.2444C>T (p.Pro815Leu)
NM_000342.4(SLC4A1):c.2458C>T (p.Pro820Ser)
NM_000342.4(SLC4A1):c.2516T>A (p.Ile839Asn)
NM_000342.4(SLC4A1):c.253GAG[1] (p.Glu86del) rs774121522
NM_000342.4(SLC4A1):c.2578C>T (p.Pro860Ser)
NM_000342.4(SLC4A1):c.2586C>A (p.Val862=) rs1485187596
NM_000342.4(SLC4A1):c.2609G>A (p.Arg870Gln)
NM_000342.4(SLC4A1):c.261C>A (p.Asn87Lys) rs761763084
NM_000342.4(SLC4A1):c.2624C>T (p.Pro875Leu)
NM_000342.4(SLC4A1):c.2652G>T (p.Gln884His)
NM_000342.4(SLC4A1):c.2655+2_2655+3del
NM_000342.4(SLC4A1):c.2702G>C (p.Arg901Pro) rs189300762
NM_000342.4(SLC4A1):c.2716G>A (p.Glu906Lys) rs199694087
NM_000342.4(SLC4A1):c.283G>C (p.Gly95Arg) rs1380205574
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) rs538778224
NM_000342.4(SLC4A1):c.290C>T (p.Pro97Leu)
NM_000342.4(SLC4A1):c.29A>T (p.Asp10Val)
NM_000342.4(SLC4A1):c.319C>T (p.Leu107Phe) rs2047435499
NM_000342.4(SLC4A1):c.344C>T (p.Thr115Ile) rs2047435077
NM_000342.4(SLC4A1):c.391G>C (p.Val131Leu)
NM_000342.4(SLC4A1):c.421T>C (p.Phe141Leu)
NM_000342.4(SLC4A1):c.449G>T (p.Arg150Leu)
NM_000342.4(SLC4A1):c.457C>G (p.Leu153Val)
NM_000342.4(SLC4A1):c.463C>T (p.Arg155Trp)
NM_000342.4(SLC4A1):c.486-14T>G
NM_000342.4(SLC4A1):c.573A>G (p.Gln191=)
NM_000342.4(SLC4A1):c.574C>A (p.His192Asn)
NM_000342.4(SLC4A1):c.609+1G>A rs1362663440
NM_000342.4(SLC4A1):c.619G>A (p.Gly207Ser)
NM_000342.4(SLC4A1):c.697C>G (p.Arg233Gly) rs779054292
NM_000342.4(SLC4A1):c.700G>A (p.Ala234Thr)
NM_000342.4(SLC4A1):c.703G>A (p.Asp235Asn)
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met) rs148170067
NM_000342.4(SLC4A1):c.776C>T (p.Pro259Leu)
NM_000342.4(SLC4A1):c.788G>A (p.Arg263His)
NM_000342.4(SLC4A1):c.796T>C (p.Phe266Leu)
NM_000342.4(SLC4A1):c.828C>T (p.Ile276=)
NM_000342.4(SLC4A1):c.85T>G (p.Ser29Ala)
NM_000342.4(SLC4A1):c.862C>A (p.Leu288Ile)
NM_000342.4(SLC4A1):c.866T>C (p.Met289Thr)
NM_000342.4(SLC4A1):c.93G>T (p.Met31Ile)

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