ClinVar Miner

List of variants reported as uncertain significance for androgen insensitivity syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_003504.5(CDC45):c.1357G>A (p.Gly453Ser) rs148062883 0.00202
NM_000044.6(AR):c.1424C>T (p.Ala475Val) rs200390780 0.00110
NM_000044.6(AR):c.173A>T (p.Gln58Leu) rs200185441 0.00038
NM_000044.6(AR):c.1153G>T (p.Ala385Ser) rs200067740 0.00018
NM_000044.6(AR):c.188A>T (p.Gln63Leu) rs62636527 0.00006
NM_000044.6(AR):c.1513C>A (p.Pro505Thr) rs764238988 0.00002
NM_000044.6(AR):c.7G>A (p.Val3Met) rs778912582 0.00002
NM_000044.6(AR):c.1889G>A (p.Arg630Gln) rs868669253 0.00001
NM_000044.6(AR):c.1040T>G (p.Leu347Arg)
NM_000044.6(AR):c.1106T>C (p.Leu369Pro)
NM_000044.6(AR):c.1123C>T (p.Pro375Ser)
NM_000044.6(AR):c.1325A>T (p.Glu442Val)
NM_000044.6(AR):c.1370GCG[20] (p.Gly471_Gly473dup) rs746853821
NM_000044.6(AR):c.1370GCG[5] (p.Gly462_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[6] (p.Gly463_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[7] (p.Gly464_Gly473del) rs746853821
NM_000044.6(AR):c.1419_1421del (p.Glu474del) rs1929768492
NM_000044.6(AR):c.1442A>G (p.Tyr481Cys) rs1555970006
NM_000044.6(AR):c.1616+22263G>A rs2147344557
NM_000044.6(AR):c.1687T>C (p.Cys563Arg)
NM_000044.6(AR):c.1693G>C (p.Asp565His)
NM_000044.6(AR):c.170AGC[8] (p.Leu56_Leu57insGlnGlnGlnGlnGlnGlnGlnGln) rs755686403
NM_000044.6(AR):c.1714T>G (p.Tyr572Asp)
NM_000044.6(AR):c.1715A>T (p.Tyr572Phe) rs1925886715
NM_000044.6(AR):c.171GCA[36] (p.Gln68_Gln80dup) rs3032358
NM_000044.6(AR):c.172_173insTGCAGCAGCAGCAGC (p.Leu57_Gln58insLeuGlnGlnGlnGln)
NM_000044.6(AR):c.172_173insTGCAGCAGCAGCAGCAGCAGC (p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln) rs1206863775
NM_000044.6(AR):c.1736G>C (p.Ser579Thr) rs1555982879
NM_000044.6(AR):c.1738T>A (p.Cys580Ser) rs2147436595
NM_000044.6(AR):c.1745T>A (p.Val582Asp)
NM_000044.6(AR):c.1762G>C (p.Ala588Pro) rs1034866440
NM_000044.6(AR):c.1768+3A>G rs2147436767
NM_000044.6(AR):c.1769-13T>G
NM_000044.6(AR):c.1793G>C (p.Ser598Thr) rs2075964628
NM_000044.6(AR):c.1793G>T (p.Ser598Ile)
NM_000044.6(AR):c.1814A>G (p.Asp605Gly) rs1555990478
NM_000044.6(AR):c.1844G>C (p.Cys615Ser) rs1602255415
NM_000044.6(AR):c.1859G>A (p.Cys620Tyr) rs1312745277
NM_000044.6(AR):c.1994T>C (p.Ile665Thr) rs9332968
NM_000044.6(AR):c.2021T>C (p.Phe674Ser) rs1602272541
NM_000044.6(AR):c.2037A>C (p.Glu679Asp) rs2076093959
NM_000044.6(AR):c.2039C>G (p.Ala680Gly)
NM_000044.6(AR):c.2042T>C (p.Ile681Thr)
NM_000044.6(AR):c.2047C>T (p.Pro683Ser) rs2076094025
NM_000044.6(AR):c.2068C>A (p.His690Asn) rs1602272594
NM_000044.6(AR):c.2070C>G (p.His690Gln) rs754583155
NM_000044.6(AR):c.2078A>T (p.Asn693Ile) rs2147524940
NM_000044.6(AR):c.2121A>C (p.Glu707Asp) rs1555995856
NM_000044.6(AR):c.2125G>A (p.Gly709Arg) rs2076094418
NM_000044.6(AR):c.2159C>T (p.Ala720Val) rs2076094679
NM_000044.6(AR):c.2164G>A (p.Ala722Thr) rs137852583
NM_000044.6(AR):c.2180G>A (p.Arg727His)
NM_000044.6(AR):c.2186T>C (p.Leu729Ser)
NM_000044.6(AR):c.2227A>G (p.Met743Val) rs2147530802
NM_000044.6(AR):c.2236A>T (p.Met746Leu) rs2076118643
NM_000044.6(AR):c.2279C>A (p.Ser760Tyr) rs2147531034
NM_000044.6(AR):c.2283G>T (p.Arg761Ser) rs2076118894
NM_000044.6(AR):c.2309T>G (p.Val770Gly) rs1555996870
NM_000044.6(AR):c.2318A>T (p.Glu773Val) rs2076119092
NM_000044.6(AR):c.2327T>C (p.Met776Thr)
NM_000044.6(AR):c.2334G>T (p.Lys778Asn) rs2076137260
NM_000044.6(AR):c.2339G>A (p.Arg780Gln)
NM_000044.6(AR):c.2345A>G (p.Tyr782Cys)
NM_000044.6(AR):c.2360G>C (p.Arg787Pro) rs764684648
NM_000044.6(AR):c.2363T>G (p.Met788Arg)
NM_000044.6(AR):c.2383T>G (p.Phe795Val) rs1162418613
NM_000044.6(AR):c.2392C>A (p.Leu798Ile)
NM_000044.6(AR):c.2420G>A (p.Cys807Tyr) rs1064793480
NM_000044.6(AR):c.2437C>T (p.Leu813Phe) rs1555997625
NM_000044.6(AR):c.2449+3A>G
NM_000044.6(AR):c.2449+5G>A
NM_000044.6(AR):c.2464C>G (p.Leu822Val)
NM_000044.6(AR):c.2465T>A (p.Leu822Gln)
NM_000044.6(AR):c.2507T>G (p.Ile836Ser) rs2076141961
NM_000044.6(AR):c.2512G>A (p.Glu838Lys) rs1555997775
NM_000044.6(AR):c.2591T>C (p.Leu864Pro) rs2076142560
NM_000044.6(AR):c.2629T>C (p.Phe877Leu) rs1057519864
NM_000044.6(AR):c.2633C>T (p.Thr878Ile) rs137852580
NM_000044.6(AR):c.2641C>G (p.Leu881Val) rs755974042
NM_000044.6(AR):c.2653T>C (p.Ser885Pro) rs2147540359
NM_000044.6(AR):c.2656C>T (p.His886Tyr)
NM_000044.6(AR):c.2666G>T (p.Ser889Ile)
NM_000044.6(AR):c.2678C>A (p.Pro893Gln) rs1602280356
NM_000044.6(AR):c.2696T>C (p.Ile899Thr) rs1555998105
NM_000044.6(AR):c.2702C>T (p.Ser901Phe)
NM_000044.6(AR):c.2726C>T (p.Ser909Phe) rs2147540747
NM_000044.6(AR):c.2741C>A (p.Pro914His) rs2147540801
NM_000044.6(AR):c.2741C>G (p.Pro914Arg)
NM_000044.6(AR):c.2744T>A (p.Ile915Asn) rs2147540812
NM_000044.6(AR):c.2752del (p.His918fs) rs1602280414
NM_000044.6(AR):c.5A>G (p.Glu2Gly) rs1929637005
NM_000044.6(AR):c.667G>A (p.Asp223Asn) rs1036966197
NM_000044.6(AR):c.725C>T (p.Ala242Val) rs1929701757
NM_000044.6(AR):c.809C>A (p.Ala270Asp)
NM_000044.6(AR):c.847C>T (p.Pro283Ser) rs1929708922
NM_000044.6(AR):c.882G>T (p.Leu294=)
NM_000044.6(AR):c.949A>G (p.Thr317Ala) rs1555969722
NM_000044.6(AR):c.980G>A (p.Cys327Tyr)
NM_000044.6(AR):c.983C>G (p.Ser328Cys) rs1929717720

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