ClinVar Miner

List of variants in gene SLC4A1 studied for anemia (disease)

Included ClinVar conditions (262):
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Total variants: 94
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HGVS dbSNP
NM_000342.3(SLC4A1):c.(1094_1375)_(2057+11_2058-41)del
NM_000342.3(SLC4A1):c.-62G>A rs387906565
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln) rs121912755
NM_000342.3(SLC4A1):c.2312G>A (p.Gly771Asp) rs121912741
NM_000342.3(SLC4A1):c.2464_2465insCACCCAGATG (p.Val822Alafs) rs387906566
NM_000342.3(SLC4A1):c.2509A>G (p.Thr837Ala) rs121912750
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp) rs28931585
NM_000342.3(SLC4A1):c.268G>A (p.Glu90Lys) rs28929480
NM_000342.3(SLC4A1):c.388G>A (p.Gly130Arg) rs121912749
NM_000342.3(SLC4A1):c.448C>T (p.Arg150Ter) rs56361140
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) rs28931583
NM_000342.3(SLC4A1):c.988C>T (p.Gln330Ter) rs121912742
NM_000342.4(SLC4A1):c.*1103del rs111655803
NM_000342.4(SLC4A1):c.*1198A>T rs886052992
NM_000342.4(SLC4A1):c.*1227A>C rs141425539
NM_000342.4(SLC4A1):c.*1237C>T rs774513767
NM_000342.4(SLC4A1):c.*1273G>T rs769140134
NM_000342.4(SLC4A1):c.*1273del rs768606768
NM_000342.4(SLC4A1):c.*1316C>T rs886052991
NM_000342.4(SLC4A1):c.*135G>A rs566741511
NM_000342.4(SLC4A1):c.*1568G>A rs5033
NM_000342.4(SLC4A1):c.*1596A>C rs886052990
NM_000342.4(SLC4A1):c.*1606_*1608dup rs57466226
NM_000342.4(SLC4A1):c.*1608del rs57466226
NM_000342.4(SLC4A1):c.*1608dup rs57466226
NM_000342.4(SLC4A1):c.*1676A>G rs745898810
NM_000342.4(SLC4A1):c.*1721G>A rs62078947
NM_000342.4(SLC4A1):c.*1832G>A rs886052988
NM_000342.4(SLC4A1):c.*270G>A rs5027
NM_000342.4(SLC4A1):c.*333C>A rs2072081
NM_000342.4(SLC4A1):c.*335G>A rs13306777
NM_000342.4(SLC4A1):c.*349G>A rs1465204
NM_000342.4(SLC4A1):c.*351G>T rs138242019
NM_000342.4(SLC4A1):c.*408C>T rs45555735
NM_000342.4(SLC4A1):c.*794del rs45515496
NM_000342.4(SLC4A1):c.*872G>C rs886052994
NM_000342.4(SLC4A1):c.*897G>A rs5030
NM_000342.4(SLC4A1):c.*947C>G rs368389948
NM_000342.4(SLC4A1):c.*977G>A rs886052993
NM_000342.4(SLC4A1):c.-135G>A rs183529485
NM_000342.4(SLC4A1):c.-136C>T rs566359654
NM_000342.4(SLC4A1):c.-30C>T rs148028272
NM_000342.4(SLC4A1):c.-60G>A rs75489266
NM_000342.4(SLC4A1):c.-65C>A rs886053001
NM_000342.4(SLC4A1):c.113A>C (p.Asp38Ala) rs5035
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000342.4(SLC4A1):c.1225G>A (p.Val409Ile) rs201821517
NM_000342.4(SLC4A1):c.1249C>T (p.Leu417=) rs5015
NM_000342.4(SLC4A1):c.1314G>A (p.Ser438=) rs13306781
NM_000342.4(SLC4A1):c.1322T>G (p.Leu441Arg) rs1555596165
NM_000342.4(SLC4A1):c.1323G>A (p.Leu441=) rs5017
NM_000342.4(SLC4A1):c.1431+13T>G rs747632229
NM_000342.4(SLC4A1):c.1431+15G>T rs886052999
NM_000342.4(SLC4A1):c.1458C>G (p.Tyr486Ter) rs1555596072
NM_000342.4(SLC4A1):c.16-14G>A rs145502796
NM_000342.4(SLC4A1):c.1637A>G (p.Asp546Gly) rs886052998
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036
NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys) rs368863744
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000342.4(SLC4A1):c.1770G>A (p.Lys590=) rs35807245
NM_000342.4(SLC4A1):c.1805G>C (p.Arg602Pro) rs121912754
NM_000342.4(SLC4A1):c.1878T>C (p.Asp626=) rs5020
NM_000342.4(SLC4A1):c.1953C>T (p.His651=) rs5021
NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys) rs13306787
NM_000342.4(SLC4A1):c.2060T>C (p.Leu687Pro) rs863225463
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp) rs121912748
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788
NM_000342.4(SLC4A1):c.2191T>C (p.Ser731Pro) rs863225461
NM_000342.4(SLC4A1):c.2201A>G (p.His734Arg) rs863225462
NM_000342.4(SLC4A1):c.2208C>T (p.Asn736=) rs766674440
NM_000342.4(SLC4A1):c.2210C>T (p.Ala737Val) rs886052997
NM_000342.4(SLC4A1):c.2243G>A (p.Gly748Glu) rs886052996
NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His) rs866727908
NM_000342.4(SLC4A1):c.2482-9C>T rs886052995
NM_000342.4(SLC4A1):c.2545_2547GTG[1] (p.Val850del) rs121912752
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000342.4(SLC4A1):c.2584G>A (p.Val862Ile) rs5026
NM_000342.4(SLC4A1):c.2630T>C (p.Ile877Thr) rs765911147
NM_000342.4(SLC4A1):c.2688T>C (p.Asp896=) rs45497993
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp) rs201265160
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) rs538778224
NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met) rs145041032
NM_000342.4(SLC4A1):c.486-2A>G rs1555596757
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654
NM_000342.4(SLC4A1):c.636A>G (p.Ser212=) rs886053000
NM_000342.4(SLC4A1):c.695-3C>A rs772264078
NM_000342.4(SLC4A1):c.697C>G (p.Arg233Gly) rs779054292
NM_000342.4(SLC4A1):c.876+14G>A rs571092411
NM_000342.4(SLC4A1):c.884G>A (p.Arg295His) rs140424071
NM_000342.4(SLC4A1):c.924G>A (p.Leu308=) rs5013

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