ClinVar Miner

List of variants studied for 46,XY sex reversal 6

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ClinVar version:
Total variants: 184
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HGVS dbSNP gnomAD frequency
NM_005921.2(MAP3K1):c.1284G>A (p.Thr428=) rs832575 0.83950
NM_005921.2(MAP3K1):c.351G>C (p.Ala117=) rs28710284 0.78277
NM_005921.2(MAP3K1):c.3190A>C (p.Arg1064=) rs832583 0.77675
NM_005921.2(MAP3K1):c.2716G>A (p.Val906Ile) rs832582 0.77671
NM_005921.2(MAP3K1):c.483-11C>A rs832567 0.66503
NM_005921.2(MAP3K1):c.2416G>A (p.Asp806Asn) rs702689 0.61396
NM_005921.2(MAP3K1):c.3820-11A>G rs3736430 0.11208
NM_005921.2(MAP3K1):c.3667-13G>A rs16886463 0.08897
NM_005921.2(MAP3K1):c.3084A>G (p.Gln1028=) rs3822625 0.07871
NM_005921.2(MAP3K1):c.482+10462A>G rs16886364 0.05783
NM_005921.2(MAP3K1):c.483-18151A>G rs16886397 0.05776
NM_005921.2(MAP3K1):c.1687-46C>G rs16886448 0.05775
NM_005921.2(MAP3K1):c.1566C>T (p.Thr522=) rs2229882 0.04382
NM_005921.2(MAP3K1):c.2816C>G (p.Ser939Cys) rs45556841 0.02871
NM_005921.2(MAP3K1):c.764A>G (p.Asn255Ser) rs56069227 0.02325
NM_005921.2(MAP3K1):c.165G>A (p.Ala55=) rs189140884 0.02295
NM_005921.2(MAP3K1):c.1644A>G (p.Gln548=) rs56225368 0.02279
NM_005921.2(MAP3K1):c.45G>A (p.Pro15=) rs192120973 0.02279
NM_005921.2(MAP3K1):c.81C>T (p.Gly27=) rs185050655 0.00789
NM_005921.2(MAP3K1):c.2953_2955del (p.Thr985del) rs140733770 0.00788
NM_005921.2(MAP3K1):c.1917G>A (p.Leu639=) rs2229883 0.00772
NM_005921.2(MAP3K1):c.720G>A (p.Ala240=) rs56279792 0.00530
NM_005921.2(MAP3K1):c.3087C>T (p.Phe1029=) rs146112116 0.00373
NM_005921.2(MAP3K1):c.3588A>C (p.Ser1196=) rs55912465 0.00351
NM_005921.2(MAP3K1):c.834+9A>G rs73135067 0.00344
NM_005921.2(MAP3K1):c.2886C>G (p.Pro962=) rs201198197 0.00284
NM_005921.2(MAP3K1):c.2179+16T>G rs201491763 0.00271
NM_005921.2(MAP3K1):c.234C>T (p.Leu78=) rs542526689 0.00150
NM_005921.2(MAP3K1):c.233T>C (p.Leu78Pro) rs572205361 0.00149
NM_005921.2(MAP3K1):c.762C>T (p.Gly254=) rs199726815 0.00148
NM_005921.2(MAP3K1):c.15G>A (p.Ala5=) rs759046760 0.00141
NM_005921.2(MAP3K1):c.710A>G (p.Gln237Arg) rs55694258 0.00088
NM_005921.2(MAP3K1):c.381G>T (p.Ser127=) rs1053991933 0.00066
NM_005921.2(MAP3K1):c.138G>A (p.Glu46=) rs1051867310 0.00052
NM_005921.2(MAP3K1):c.2598C>T (p.Ala866=) rs201679580 0.00035
NM_005921.2(MAP3K1):c.2431A>G (p.Met811Val) rs189290632 0.00026
NM_005921.2(MAP3K1):c.3783A>G (p.Gln1261=) rs201159436 0.00021
NM_005921.2(MAP3K1):c.3857A>T (p.Glu1286Val) rs371578161 0.00021
NM_005921.2(MAP3K1):c.934A>T (p.Met312Leu) rs376808920 0.00020
NM_005921.2(MAP3K1):c.576C>T (p.Thr192=) rs372106846 0.00017
NM_005921.2(MAP3K1):c.894A>G (p.Pro298=) rs372575885 0.00017
NM_005921.2(MAP3K1):c.743G>A (p.Arg248Gln) rs201579608 0.00015
NM_005921.2(MAP3K1):c.2757A>G (p.Lys919=) rs200375119 0.00014
NM_005921.2(MAP3K1):c.2571G>A (p.Met857Ile) rs367884272 0.00012
NM_005921.2(MAP3K1):c.44C>G (p.Pro15Arg) rs765282250 0.00012
NM_005921.2(MAP3K1):c.2665G>C (p.Val889Leu) rs56228802 0.00011
NM_005921.2(MAP3K1):c.394G>C (p.Asp132His) rs557606535 0.00011
NM_005921.2(MAP3K1):c.3498C>T (p.Thr1166=) rs200078723 0.00010
NM_005921.2(MAP3K1):c.1510G>A (p.Glu504Lys) rs764525244 0.00008
NM_005921.2(MAP3K1):c.1131A>G (p.Arg377=) rs55818365 0.00007
NM_005921.2(MAP3K1):c.2479G>A (p.Val827Ile) rs763246417 0.00007
NM_005921.2(MAP3K1):c.1921A>G (p.Met641Val) rs759485701 0.00006
NM_005921.2(MAP3K1):c.304G>A (p.Gly102Arg) rs531377824 0.00006
NM_005921.2(MAP3K1):c.3242T>A (p.Met1081Lys) rs754640057 0.00006
NM_005921.2(MAP3K1):c.3667-4G>T rs552563402 0.00005
NM_005921.2(MAP3K1):c.917G>A (p.Arg306His) rs375262853 0.00005
NM_005921.2(MAP3K1):c.3266C>G (p.Ser1089Cys) rs755658722 0.00004
NM_005921.2(MAP3K1):c.3667-7T>C rs117348142 0.00004
NM_005921.2(MAP3K1):c.163G>A (p.Ala55Thr) rs769918068 0.00003
NM_005921.2(MAP3K1):c.2617G>A (p.Val873Ile) rs149242419 0.00003
NM_005921.2(MAP3K1):c.3070A>C (p.Lys1024Gln) rs780666910 0.00003
NM_005921.2(MAP3K1):c.4107T>C (p.Asp1369=) rs373835578 0.00003
NM_005921.2(MAP3K1):c.4128A>C (p.Leu1376=) rs113150610 0.00003
NM_005921.2(MAP3K1):c.1035+12C>T rs773590377 0.00002
NM_005921.2(MAP3K1):c.1605A>G (p.Gln535=) rs56232761 0.00002
NM_005921.2(MAP3K1):c.548G>A (p.Arg183Gln) rs1454725137 0.00002
NM_005921.2(MAP3K1):c.1015C>T (p.Arg339Trp) rs373572109 0.00001
NM_005921.2(MAP3K1):c.1613A>G (p.Asn538Ser) rs374113323 0.00001
NM_005921.2(MAP3K1):c.2588T>C (p.Val863Ala) rs563304338 0.00001
NM_005921.2(MAP3K1):c.3828T>C (p.Tyr1276=) rs372801625 0.00001
NM_005921.2(MAP3K1):c.3957C>T (p.Tyr1319=) rs1478914246 0.00001
NM_005921.2(MAP3K1):c.4258-5T>C rs761483754 0.00001
NM_005921.2(MAP3K1):c.4304T>C (p.Val1435Ala) rs1356600233 0.00001
NM_005921.2(MAP3K1):c.597C>T (p.His199=) rs781610164 0.00001
NM_005921.2(MAP3K1):c.614G>A (p.Arg205Lys) rs768329767 0.00001
NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu) rs56160159 0.00001
NM_005921.2(MAP3K1):c.1016G>A (p.Arg339Gln) rs1554034036
NM_005921.2(MAP3K1):c.1136C>T (p.Thr379Ile) rs1747647344
NM_005921.2(MAP3K1):c.1348A>G (p.Met450Val)
NM_005921.2(MAP3K1):c.138G>T (p.Glu46Asp)
NM_005921.2(MAP3K1):c.13G>C (p.Ala5Pro)
NM_005921.2(MAP3K1):c.1524T>G (p.Pro508=)
NM_005921.2(MAP3K1):c.1558C>G (p.Gln520Glu) rs1579768504
NM_005921.2(MAP3K1):c.1599G>A (p.Arg533=)
NM_005921.2(MAP3K1):c.161G>A (p.Arg54Gln)
NM_005921.2(MAP3K1):c.1631A>T (p.Tyr544Phe)
NM_005921.2(MAP3K1):c.1637C>T (p.Thr546Ile)
NM_005921.2(MAP3K1):c.1666T>G (p.Leu556Val) rs763710987
NM_005921.2(MAP3K1):c.1687-17GT[2]
NM_005921.2(MAP3K1):c.170GGC[5] (p.Arg60dup) rs746070735
NM_005921.2(MAP3K1):c.1758T>A (p.Arg586=)
NM_005921.2(MAP3K1):c.1760T>A (p.Leu587His) rs1131692186
NM_005921.2(MAP3K1):c.1782C>G (p.Ala594=)
NM_005921.2(MAP3K1):c.1801G>A (p.Glu601Lys)
NM_005921.2(MAP3K1):c.1803G>A (p.Glu601=)
NM_005921.2(MAP3K1):c.1846G>A (p.Gly616Arg) rs143853590
NM_005921.2(MAP3K1):c.185T>G (p.Leu62Arg)
NM_005921.2(MAP3K1):c.1903T>C (p.Cys635Arg)
NM_005921.2(MAP3K1):c.1913T>G (p.Val638Gly)
NM_005921.2(MAP3K1):c.1923G>A (p.Met641Ile) rs886041049
NM_005921.2(MAP3K1):c.1926C>A (p.Val642=) rs867527029
NM_005921.2(MAP3K1):c.1970C>G (p.Thr657Arg) rs1579775153
NM_005921.2(MAP3K1):c.1985T>C (p.Leu662Pro)
NM_005921.2(MAP3K1):c.2012C>T (p.Ala671Val)
NM_005921.2(MAP3K1):c.2013G>A (p.Ala671=)
NM_005921.2(MAP3K1):c.201T>C (p.Ser67=)
NM_005921.2(MAP3K1):c.2022C>G (p.Ile674Met)
NM_005921.2(MAP3K1):c.2072G>A (p.Cys691Tyr) rs1554035463
NM_005921.2(MAP3K1):c.2091C>T (p.Arg697=)
NM_005921.2(MAP3K1):c.2117T>C (p.Leu706Pro)
NM_005921.2(MAP3K1):c.2133A>G (p.Lys711=)
NM_005921.2(MAP3K1):c.2241A>G (p.Glu747=)
NM_005921.2(MAP3K1):c.2284_2286dup (p.Asp762_Arg763insAsp)
NM_005921.2(MAP3K1):c.228G>C (p.Gln76His)
NM_005921.2(MAP3K1):c.233_234delinsCT (p.Leu78Pro) rs1554028405
NM_005921.2(MAP3K1):c.2370-17A>G
NM_005921.2(MAP3K1):c.2420A>G (p.Asn807Ser)
NM_005921.2(MAP3K1):c.2539A>G (p.Thr847Ala)
NM_005921.2(MAP3K1):c.2558G>A (p.Arg853His)
NM_005921.2(MAP3K1):c.261C>G (p.Ser87=)
NM_005921.2(MAP3K1):c.2696A>G (p.Asn899Ser) rs142968004
NM_005921.2(MAP3K1):c.2702C>G (p.Ser901Cys)
NM_005921.2(MAP3K1):c.2782_2784del (p.Ser928del) rs1748225593
NM_005921.2(MAP3K1):c.2824ACA[10] (p.Thr948_Thr949dup) rs5868032
NM_005921.2(MAP3K1):c.2824ACA[4] (p.Thr946_Thr949del) rs5868032
NM_005921.2(MAP3K1):c.2824ACA[7] (p.Thr949del) rs5868032
NM_005921.2(MAP3K1):c.2824ACA[9] (p.Thr949_Glu950insThr)
NM_005921.2(MAP3K1):c.2848G>C (p.Glu950Gln)
NM_005921.2(MAP3K1):c.2864T>C (p.Met955Thr)
NM_005921.2(MAP3K1):c.293C>G (p.Ala98Gly)
NM_005921.2(MAP3K1):c.3060A>G (p.Gln1020=)
NM_005921.2(MAP3K1):c.30G>T (p.Ser10=)
NM_005921.2(MAP3K1):c.311G>A (p.Gly104Asp)
NM_005921.2(MAP3K1):c.3133G>C (p.Val1045Leu)
NM_005921.2(MAP3K1):c.3198C>G (p.Thr1066=) rs918712593
NM_005921.2(MAP3K1):c.3212G>T (p.Ser1071Ile)
NM_005921.2(MAP3K1):c.3263G>C (p.Ser1088Thr)
NM_005921.2(MAP3K1):c.3275A>G (p.Asp1092Gly)
NM_005921.2(MAP3K1):c.331C>T (p.Pro111Ser)
NM_005921.2(MAP3K1):c.3416C>T (p.Ser1139Phe)
NM_005921.2(MAP3K1):c.347C>T (p.Ala116Val)
NM_005921.2(MAP3K1):c.3608C>G (p.Pro1203Arg)
NM_005921.2(MAP3K1):c.3609C>T (p.Pro1203=) rs1554035881
NM_005921.2(MAP3K1):c.361G>A (p.Gly121Ser)
NM_005921.2(MAP3K1):c.3667-4G>A rs552563402
NM_005921.2(MAP3K1):c.3743A>G (p.Gln1248Arg)
NM_005921.2(MAP3K1):c.3774T>C (p.Tyr1258=)
NM_005921.2(MAP3K1):c.3819+9C>G
NM_005921.2(MAP3K1):c.3846T>G (p.Ser1282=) rs375842337
NM_005921.2(MAP3K1):c.3953A>G (p.Asn1318Ser)
NM_005921.2(MAP3K1):c.3964T>G (p.Phe1322Val)
NM_005921.2(MAP3K1):c.3978G>A (p.Met1326Ile)
NM_005921.2(MAP3K1):c.4074G>A (p.Ser1358=)
NM_005921.2(MAP3K1):c.4092A>G (p.Gln1364=)
NM_005921.2(MAP3K1):c.4114+10C>G
NM_005921.2(MAP3K1):c.4278T>C (p.Tyr1426=) rs547649904
NM_005921.2(MAP3K1):c.429C>T (p.Pro143=) rs1211934332
NM_005921.2(MAP3K1):c.4318A>G (p.Ile1440Val)
NM_005921.2(MAP3K1):c.4327G>A (p.Ala1443Thr) rs559360433
NM_005921.2(MAP3K1):c.4405A>G (p.Thr1469Ala)
NM_005921.2(MAP3K1):c.4415C>T (p.Ser1472Leu) rs776167103
NM_005921.2(MAP3K1):c.4416G>T (p.Ser1472=) rs201067455
NM_005921.2(MAP3K1):c.4445G>A (p.Arg1482Gln)
NM_005921.2(MAP3K1):c.450C>T (p.Ala150=)
NM_005921.2(MAP3K1):c.458C>T (p.Pro153Leu) rs576080629
NM_005921.2(MAP3K1):c.476C>T (p.Pro159Leu)
NM_005921.2(MAP3K1):c.485G>A (p.Arg162His)
NM_005921.2(MAP3K1):c.499A>G (p.Lys167Glu)
NM_005921.2(MAP3K1):c.536G>A (p.Arg179His)
NM_005921.2(MAP3K1):c.556A>G (p.Arg186Gly) rs1579750361
NM_005921.2(MAP3K1):c.564A>T (p.Lys188Asn)
NM_005921.2(MAP3K1):c.566T>A (p.Leu189Gln) rs387906788
NM_005921.2(MAP3K1):c.566T>C (p.Leu189Pro) rs387906788
NM_005921.2(MAP3K1):c.566T>G (p.Leu189Arg) rs387906788
NM_005921.2(MAP3K1):c.5CGG[5] (p.Ala5dup) rs779149827
NM_005921.2(MAP3K1):c.5CGG[6] (p.Ala5_Gly6insAlaAla)
NM_005921.2(MAP3K1):c.633+815T>C rs1017226
NM_005921.2(MAP3K1):c.634-8T>A rs1131692053
NM_005921.2(MAP3K1):c.786G>T (p.Val262=)
NM_005921.2(MAP3K1):c.835-11dup rs201780112
NM_005921.2(MAP3K1):c.86G>A (p.Gly29Glu) rs1581198964
NM_005921.2(MAP3K1):c.89C>A (p.Ala30Asp) rs971549264
NM_005921.2(MAP3K1):c.916C>T (p.Arg306Cys)
NM_005921.2(MAP3K1):c.959A>G (p.Gln320Arg)

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