ClinVar Miner

List of variants studied for Calcium oxalate urolithiasis

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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_199173.4(BGLAP):c.*304G>A rs759330 0.74673
NM_022042.4(SLC26A1):c.1667A>G (p.Gln556Arg) rs3796622 0.66349
NM_000610.4(CD44):c.68-5493C>T rs112762 0.56162
NM_000610.4(CD44):c.68-6677C>G rs353647 0.48488
NM_001622.4(AHSG):c.574-298T>G rs2070634 0.46754
NM_001622.4(AHSG):c.574-149A>G rs2070635 0.35592
NM_000610.4(CD44):c.2024+779A>G rs7116432 0.34799
NM_000610.4(CD44):c.923-767T>A rs7110737 0.33577
NM_000610.4(CD44):c.68-9931G>A rs353630 0.33290
NM_000610.4(CD44):c.67+14128T>C rs353618 0.32186
NM_017545.3(HAO1):c.290-1983G>A rs6118004 0.31295
NM_017545.3(HAO1):c.289+8188C>T rs2142697 0.30766
NM_000610.4(CD44):c.67+11205G>A rs353623 0.30713
NM_017545.3(HAO1):c.290-4862A>G rs2205818 0.25327
NM_017545.3(HAO1):c.289+5965C>T rs6140463 0.25024
NM_017545.3(HAO1):c.721+1617G>C rs2294301 0.24949
NM_017545.3(HAO1):c.289+2189G>C rs2235245 0.23364
NM_000610.4(CD44):c.68-18471G>A rs353612 0.23283
NM_017545.3(HAO1):c.545+1171T>C rs2423326 0.21516
NM_000610.4(CD44):c.234-905G>A rs3794105 0.19058
NM_000610.4(CD44):c.68-13570A>T rs353637 0.16733
NM_000610.4(CD44):c.68-5843A>G rs3794109 0.16088
NM_000610.4(CD44):c.68-5908G>A rs3794110 0.15989
NM_017545.2(HAO1):c.*697T>C rs6055363 0.08644
NM_017545.3(HAO1):c.814-2945A>G rs2294305 0.07520
NM_017545.3(HAO1):c.814-4211G>A rs2235250 0.07517
NM_017545.3(HAO1):c.137+329T>C rs2255183 0.06984
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_000203.5(IDUA):c.299+6C>T rs147498923 0.00927
NM_022042.4(SLC26A1):c.171G>A (p.Thr57=) rs35019459 0.00865
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00859
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 0.00161
NM_022042.4(SLC26A1):c.1511G>A (p.Arg504His) rs201106151 0.00150
NM_022042.4(SLC26A1):c.654G>A (p.Gly218=) rs375888392 0.00081
NM_022042.4(SLC26A1):c.639T>C (p.Asp213=) rs369163740 0.00076
NM_000203.5(IDUA):c.299+988C>T rs142262555 0.00037
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260 0.00032
NM_022042.4(SLC26A1):c.153G>C (p.Gln51His) rs200471470 0.00028
NM_022042.4(SLC26A1):c.1296G>A (p.Pro432=) rs150810594 0.00023
NM_022042.4(SLC26A1):c.181C>T (p.Arg61Cys) rs547128457 0.00022
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.554C>T (p.Thr185Met) rs139024319 0.00019
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_022042.4(SLC26A1):c.1060G>A (p.Ala354Thr) rs756246013 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.763G>A (p.Gly255Ser) rs773823235 0.00008
NM_022042.4(SLC26A1):c.1116T>C (p.Arg372=) rs559991759 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.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_022042.4(SLC26A1):c.1394G>A (p.Arg465Gln) rs757960404 0.00002
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.1519C>A (p.Arg507Ser) rs368806302
NM_022042.4(SLC26A1):c.1686G>A (p.Thr562=) rs199549367
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.824T>C (p.Leu275Pro) rs1192140369
NM_022042.4(SLC26A1):c.838C>T (p.Leu280Phe) rs1258373980

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