ClinVar Miner

List of variants in gene SLC4A1 studied for Autosomal dominant distal renal tubular acidosis

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Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_000342.4(SLC4A1):c.*1568G>A rs5033 0.63671
NM_000342.4(SLC4A1):c.*333C>A rs2072081 0.36187
NM_000342.4(SLC4A1):c.*349G>A rs1465204 0.05293
NM_000342.4(SLC4A1):c.1323G>A (p.Leu441=) rs5017 0.05230
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.05002
NM_000342.4(SLC4A1):c.*270G>A rs5027 0.04383
NM_000342.4(SLC4A1):c.1249C>T (p.Leu417=) rs5015 0.03061
NM_000342.4(SLC4A1):c.2584G>A (p.Val862Ile) rs5026 0.02980
NM_000342.4(SLC4A1):c.113A>C (p.Asp38Ala) rs5035 0.02695
NM_000342.4(SLC4A1):c.*1721G>A rs62078947 0.02193
NM_000342.4(SLC4A1):c.*897G>A rs5030 0.02004
NM_000342.4(SLC4A1):c.2688T>C (p.Asp896=) rs45497993 0.01896
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733 0.01857
NM_000342.4(SLC4A1):c.924G>A (p.Leu308=) rs5013 0.01720
NM_000342.4(SLC4A1):c.*408C>T rs45555735 0.01626
NM_000342.4(SLC4A1):c.1770G>A (p.Lys590=) rs35807245 0.01536
NM_000342.4(SLC4A1):c.16-14G>A rs145502796 0.01351
NM_000342.4(SLC4A1):c.1878T>C (p.Asp626=) rs5020 0.01332
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_000342.4(SLC4A1):c.2100C>T (p.Ser700=) rs5024 0.01001
NM_000342.4(SLC4A1):c.1239C>T (p.Tyr413=) rs5014 0.00887
NM_000342.4(SLC4A1):c.*335G>A rs13306777 0.00773
NM_000342.4(SLC4A1):c.1953C>T (p.His651=) rs5021 0.00529
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788 0.00342
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654 0.00294
NM_000342.4(SLC4A1):c.*1227A>C rs141425539 0.00288
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644 0.00284
NM_000342.4(SLC4A1):c.-60G>A rs75489266 0.00245
NM_000342.4(SLC4A1):c.1314G>A (p.Ser438=) rs13306781 0.00193
NM_000342.4(SLC4A1):c.*1792G>A rs143785442 0.00184
NM_000342.4(SLC4A1):c.-135G>A rs183529485 0.00173
NM_000342.4(SLC4A1):c.-30C>T rs148028272 0.00167
NM_000342.4(SLC4A1):c.2716G>C (p.Glu906Gln) rs199694087 0.00128
NM_000342.4(SLC4A1):c.*353G>C rs571581247 0.00093
NM_000342.4(SLC4A1):c.615T>C (p.Asp205=) rs5038 0.00070
NM_000342.4(SLC4A1):c.884G>A (p.Arg295His) rs140424071 0.00065
NM_000342.4(SLC4A1):c.349+15C>G rs541501285 0.00054
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759 0.00051
NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met) rs145041032 0.00044
NM_000342.4(SLC4A1):c.*1237C>T rs774513767 0.00038
NM_000342.4(SLC4A1):c.*1676A>G rs745898810 0.00034
NM_000342.4(SLC4A1):c.*1933G>A rs565128885 0.00034
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp) rs201265160 0.00031
NM_000342.4(SLC4A1):c.*947C>G rs368389948 0.00029
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.798T>C (p.Phe266=) rs193011645 0.00023
NM_000342.4(SLC4A1):c.*544C>T rs910311843 0.00016
NM_000342.4(SLC4A1):c.-136C>T rs566359654 0.00016
NM_000342.4(SLC4A1):c.1671G>A (p.Val557=) rs147838240 0.00016
NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr) rs142905862 0.00015
NM_000342.4(SLC4A1):c.*1273G>T rs769140134 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.*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.*977G>A rs886052993 0.00006
NM_000342.4(SLC4A1):c.2208C>T (p.Asn736=) rs766674440 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.*431T>C rs951207868 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.*135G>A rs566741511 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.1937G>A (p.Arg646Gln) rs121912757 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.2193C>T (p.Ser731=) rs754017629 0.00003
NM_000342.4(SLC4A1):c.2401A>C (p.Ser801Arg) rs775095594 0.00003
NM_000342.4(SLC4A1):c.2482-9C>T rs886052995 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.202G>A (p.Glu68Lys) rs13306787 0.00002
NM_000342.4(SLC4A1):c.2547G>A (p.Val849=) rs753357599 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.1225G>A (p.Val409Ile) rs201821517 0.00001
NM_000342.4(SLC4A1):c.1471G>A (p.Val491Met) rs757478694 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.2656C>A (p.Leu886Met) rs150340150 0.00001
NM_000342.4(SLC4A1):c.567C>G (p.Leu189=) rs746103796 0.00001
NM_000342.4(SLC4A1):c.636A>G (p.Ser212=) rs886053000 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.1179C>T (p.Tyr393=) rs2047406551
NM_000342.4(SLC4A1):c.1202T>G (p.Phe401Cys) rs141751197
NM_000342.4(SLC4A1):c.1552C>T (p.Arg518Cys) rs868742796
NM_000342.4(SLC4A1):c.1574C>T (p.Ser525Phe) rs1555596013
NM_000342.4(SLC4A1):c.1626+7G>A rs765327742
NM_000342.4(SLC4A1):c.1765C>A (p.Arg589Ser) rs121912745
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.1838C>T (p.Ser613Phe) rs121912746
NM_000342.4(SLC4A1):c.2002G>T (p.Ala668Ser)
NM_000342.4(SLC4A1):c.2019G>A (p.Leu673=) rs2047371426
NM_000342.4(SLC4A1):c.2188C>T (p.Arg730Cys) rs770569237
NM_000342.4(SLC4A1):c.2243G>A (p.Gly748Glu) rs886052996
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000342.4(SLC4A1):c.2586C>A (p.Val862=) rs1485187596
NM_000342.4(SLC4A1):c.261C>A (p.Asn87Lys) rs761763084
NM_000342.4(SLC4A1):c.2692G>T (p.Glu898Ter) rs2144594807
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) rs538778224
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.697C>G (p.Arg233Gly) rs779054292
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met) rs148170067
NM_000342.4(SLC4A1):c.92T>C (p.Met31Thr) rs55773290
NM_000342.4(SLC4A1):c.[2687_2699dup;2710_2718del]

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