ClinVar Miner

List of variants studied for BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP--WALDNER TYPE; BLOOD GROUP--FROESE; BLOOD GROUP--WRIGHT ANTIGEN; Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; Cryohydrocytosis; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia; Malaria, susceptibility to by Fulgent Genetics, Fulgent Genetics

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ClinVar version:
Total variants: 152
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HGVS dbSNP gnomAD frequency
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733 0.01857
NM_000342.4(SLC4A1):c.12G>A (p.Leu4=) rs115901854 0.00447
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788 0.00342
NM_000342.4(SLC4A1):c.2482-7C>T rs371728036 0.00063
NM_000342.4(SLC4A1):c.2340G>A (p.Leu780=) rs139912334 0.00056
NM_000342.4(SLC4A1):c.297C>T (p.Leu99=) rs146541331 0.00046
NM_000342.4(SLC4A1):c.1272C>T (p.Gly424=) rs148115666 0.00035
NM_000342.4(SLC4A1):c.486-18C>T rs201023917 0.00031
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys) rs75731670 0.00024
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=) rs193011645 0.00023
NM_000342.4(SLC4A1):c.277G>T (p.Ala93Ser) rs145054469 0.00017
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.1759A>T (p.Met587Leu) rs201228206 0.00009
NM_000342.4(SLC4A1):c.2057C>T (p.Thr686Met) rs143131877 0.00009
NM_000342.4(SLC4A1):c.1800+12C>T rs556266412 0.00008
NM_000342.4(SLC4A1):c.523C>A (p.Pro175Thr) rs201611359 0.00007
NM_000342.4(SLC4A1):c.102G>A (p.Pro34=) rs55898602 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_000342.3(SLC4A1):c.388G>A (p.Gly130Arg) rs121912749 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.1800+17C>T rs370756072 0.00004
NM_000342.4(SLC4A1):c.1311G>A (p.Val437=) rs370089486 0.00003
NM_000342.4(SLC4A1):c.538C>T (p.Arg180Cys) rs749020872 0.00003
NM_000342.4(SLC4A1):c.876+8A>G rs750432041 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.2002G>A (p.Ala668Thr) rs368353943 0.00002
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp) rs121912748 0.00002
NM_000342.4(SLC4A1):c.2204C>T (p.Ala735Val) rs748087778 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.697C>T (p.Arg233Cys) rs779054292 0.00002
NM_000342.4(SLC4A1):c.826A>G (p.Ile276Val) rs746406399 0.00002
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584 0.00001
NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro) rs768426818 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.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.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.604G>A (p.Glu202Lys) rs879205711 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_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln) rs121912755
NM_000342.3(SLC4A1):c.448C>T (p.Arg150Ter) rs56361140
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter) rs750930293
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.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000342.4(SLC4A1):c.1204A>G (p.Ser402Gly)
NM_000342.4(SLC4A1):c.1242del (p.Phe414fs)
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.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.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.1642C>A (p.Pro548Thr)
NM_000342.4(SLC4A1):c.1737C>A (p.Ala579=)
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His) rs121912744
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.1825G>A (p.Gly609Arg) rs878853002
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.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.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.2260C>T (p.Gln754Ter) rs2144601189
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.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.2573C>A (p.Ala858Asp) rs121912751
NM_000342.4(SLC4A1):c.2578C>T (p.Pro860Ser)
NM_000342.4(SLC4A1):c.2609G>A (p.Arg870Gln)
NM_000342.4(SLC4A1):c.2624C>T (p.Pro875Leu)
NM_000342.4(SLC4A1):c.2652G>T (p.Gln884His)
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.2716G>T (p.Glu906Ter) rs199694087
NM_000342.4(SLC4A1):c.2726T>C (p.Met909Thr) rs2047328405
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.349+1G>C
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.619G>A (p.Gly207Ser)
NM_000342.4(SLC4A1):c.659T>C (p.Ile220Thr)
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.768G>A (p.Val256=)
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.82G>A (p.Glu28Lys)
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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