ClinVar Miner

List of variants reported as benign for Autosomal dominant distal renal tubular acidosis

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Total variants: 61
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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.*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.*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.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.*1237C>T rs774513767 0.00048
NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met) rs145041032 0.00044
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.-136C>T rs566359654 0.00016
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.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.1937G>A (p.Arg646Gln) rs121912757 0.00004
NM_000342.4(SLC4A1):c.719C>T (p.Pro240Leu) rs764833865 0.00004
NM_000342.4(SLC4A1):c.2401A>C (p.Ser801Arg) rs775095594 0.00003
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.486-10C>T rs376999476 0.00002
NM_000342.4(SLC4A1):c.672A>G (p.Ser224=) rs772317162 0.00002
NM_000342.4(SLC4A1):c.*5C>T rs748428663 0.00001
NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys) rs368863744 0.00001
NM_000342.4(SLC4A1):c.1971C>T (p.Ser657=) rs200107906 0.00001
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) rs538778224
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met) rs148170067
NM_000342.4(SLC4A1):c.92T>C (p.Met31Thr) rs55773290

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