ClinVar Miner

List of variants in gene combination IDUA, SLC26A1 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_022042.4(SLC26A1):c.513C>T (p.Cys171=) rs114936403 0.01361
NM_022042.4(SLC26A1):c.1115G>A (p.Arg372His) rs73219719 0.01054
NM_022042.4(SLC26A1):c.1713C>G (p.Ala571=) rs36069160 0.00995
NM_022042.4(SLC26A1):c.*878G>A rs147498923 0.00924
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_022042.4(SLC26A1):c.171G>A (p.Thr57=) rs35019459 0.00865
NM_022042.4(SLC26A1):c.534C>T (p.Ile178=) rs36095812 0.00611
NM_022042.4(SLC26A1):c.1043T>C (p.Leu348Pro) rs148386572 0.00222
NM_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr) rs146466185 0.00158
NM_022042.4(SLC26A1):c.1511G>A (p.Arg504His) rs201106151 0.00150
NM_022042.4(SLC26A1):c.181C>T (p.Arg61Cys) rs547128457 0.00084
NM_022042.4(SLC26A1):c.1004C>T (p.Pro335Leu) rs140299648 0.00069
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_022042.4(SLC26A1):c.166G>A (p.Ala56Thr) rs142573758 0.00061
NM_022042.4(SLC26A1):c.1286C>T (p.Ala429Val) rs139142520 0.00038
NM_022042.4(SLC26A1):c.153G>C (p.Gln51His) rs200471470 0.00028
NM_000203.5(IDUA):c.-71C>T rs886059748 0.00026
NM_022042.4(SLC26A1):c.1296G>A (p.Pro432=) rs150810594 0.00023
NM_022042.4(SLC26A1):c.432C>T (p.Ala144=) rs143284684 0.00021
NM_022042.4(SLC26A1):c.1585G>A (p.Glu529Lys) rs371738826 0.00019
NM_022042.4(SLC26A1):c.400G>A (p.Gly134Arg) rs201921976 0.00017
NM_022042.4(SLC26A1):c.1785G>A (p.Pro595=) rs148200047 0.00016
NM_022042.4(SLC26A1):c.315C>G (p.Ser105=) rs377636525 0.00014
NM_022042.4(SLC26A1):c.535C>T (p.Arg179Cys) rs370208644 0.00014
NM_022042.4(SLC26A1):c.1152C>T (p.Asn384=) rs140876735 0.00013
NM_022042.4(SLC26A1):c.1385G>A (p.Arg462Gln) rs201608921 0.00011
NM_022042.4(SLC26A1):c.1520G>A (p.Arg507His) rs375487522 0.00011
NM_022042.4(SLC26A1):c.1869C>T (p.Asp623=) rs144567476 0.00011
NM_000203.5(IDUA):c.299+1368C>T rs376289512 0.00010
NM_022042.4(SLC26A1):c.1060G>A (p.Ala354Thr) rs756246013 0.00010
NM_022042.4(SLC26A1):c.1116T>C (p.Arg372=) rs559991759 0.00009
NM_022042.4(SLC26A1):c.1404G>A (p.Pro468=) rs370491888 0.00009
NM_022042.4(SLC26A1):c.1848C>T (p.Cys616=) rs377435206 0.00009
NM_022042.4(SLC26A1):c.747G>A (p.Trp249Ter) rs536555705 0.00009
NM_022042.4(SLC26A1):c.1189G>A (p.Ala397Thr) rs572968482 0.00008
NM_022042.4(SLC26A1):c.2063G>A (p.Arg688Gln) rs148726880 0.00008
NM_022042.4(SLC26A1):c.763G>A (p.Gly255Ser) rs773823235 0.00008
NM_022042.4(SLC26A1):c.1316G>A (p.Arg439Gln) rs148721282 0.00007
NM_022042.4(SLC26A1):c.1231C>T (p.Arg411Trp) rs554753768 0.00006
NM_022042.4(SLC26A1):c.1531G>A (p.Ala511Thr) rs369620087 0.00006
NM_022042.4(SLC26A1):c.1557G>A (p.Thr519=) rs146711224 0.00004
NM_022042.4(SLC26A1):c.1685C>T (p.Thr562Met) rs201503661 0.00004
NM_022042.4(SLC26A1):c.1854G>A (p.Pro618=) rs748205966 0.00004
NM_022042.4(SLC26A1):c.704G>A (p.Arg235Gln) rs369080577 0.00004
NM_022042.4(SLC26A1):c.547G>A (p.Ala183Thr) rs546110251 0.00003
NM_000203.5(IDUA):c.112C>T (p.Arg38Cys) rs950667822 0.00002
NM_022042.4(SLC26A1):c.1394G>A (p.Arg465Gln) rs757960404 0.00002
NM_022042.4(SLC26A1):c.654G>A (p.Gly218=) rs375888392 0.00002
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877 0.00001
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) rs754966840 0.00001
NM_000203.5(IDUA):c.90C>G (p.His30Gln) rs553425887 0.00001
NM_022042.4(SLC26A1):c.1232G>A (p.Arg411Gln) rs758753898 0.00001
NM_022042.4(SLC26A1):c.1506C>T (p.Ala502=) rs753883088 0.00001
NM_022042.4(SLC26A1):c.1813G>A (p.Ala605Thr) rs756245768 0.00001
NM_022042.4(SLC26A1):c.639T>C (p.Asp213=) rs369163740 0.00001
NM_022042.4(SLC26A1):c.774G>C (p.Gln258His) rs745511682 0.00001
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu) rs1421520718
NM_022042.4(SLC26A1):c.1244C>T (p.Ser415Phe) rs200470975
NM_022042.4(SLC26A1):c.1519C>A (p.Arg507Ser) rs368806302
NM_022042.4(SLC26A1):c.1686G>A (p.Thr562=) rs199549367
NM_022042.4(SLC26A1):c.1937_1947del (p.Leu646fs) rs752630392
NM_022042.4(SLC26A1):c.311C>T (p.Thr104Met) rs751574638
NM_022042.4(SLC26A1):c.316TTC[1] (p.Phe107del) rs750081799
NM_022042.4(SLC26A1):c.577-15G>A rs192314032
NM_022042.4(SLC26A1):c.637G>A (p.Asp213Asn) rs372848776
NM_022042.4(SLC26A1):c.990_997dup (p.Pro333fs) rs754967651

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