ClinVar Miner

List of variants reported as uncertain significance for 46,XY sex reversal 6

Included ClinVar conditions (1):
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_005921.2(MAP3K1):c.934A>T (p.Met312Leu) rs376808920 0.00020
NM_005921.2(MAP3K1):c.44C>G (p.Pro15Arg) rs765282250 0.00012
NM_005921.2(MAP3K1):c.1510G>A (p.Glu504Lys) rs764525244 0.00008
NM_005921.2(MAP3K1):c.3242T>A (p.Met1081Lys) rs754640057 0.00006
NM_005921.2(MAP3K1):c.3266C>G (p.Ser1089Cys) rs755658722 0.00004
NM_005921.2(MAP3K1):c.163G>A (p.Ala55Thr) rs769918068 0.00003
NM_005921.2(MAP3K1):c.4258-5T>C rs761483754 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.1136C>T (p.Thr379Ile) rs1747647344
NM_005921.2(MAP3K1):c.138G>T (p.Glu46Asp)
NM_005921.2(MAP3K1):c.13G>C (p.Ala5Pro)
NM_005921.2(MAP3K1):c.1558C>G (p.Gln520Glu) rs1579768504
NM_005921.2(MAP3K1):c.161G>A (p.Arg54Gln)
NM_005921.2(MAP3K1):c.1631A>T (p.Tyr544Phe)
NM_005921.2(MAP3K1):c.1666T>G (p.Leu556Val) rs763710987
NM_005921.2(MAP3K1):c.170GGC[5] (p.Arg60dup) rs746070735
NM_005921.2(MAP3K1):c.1913T>G (p.Val638Gly)
NM_005921.2(MAP3K1):c.1970C>G (p.Thr657Arg) rs1579775153
NM_005921.2(MAP3K1):c.1985T>C (p.Leu662Pro)
NM_005921.2(MAP3K1):c.2022C>G (p.Ile674Met)
NM_005921.2(MAP3K1):c.2072G>A (p.Cys691Tyr) rs1554035463
NM_005921.2(MAP3K1):c.2420A>G (p.Asn807Ser)
NM_005921.2(MAP3K1):c.2539A>G (p.Thr847Ala)
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.311G>A (p.Gly104Asp)
NM_005921.2(MAP3K1):c.3133G>C (p.Val1045Leu)
NM_005921.2(MAP3K1):c.3212G>T (p.Ser1071Ile)
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.3608C>G (p.Pro1203Arg)
NM_005921.2(MAP3K1):c.361G>A (p.Gly121Ser)
NM_005921.2(MAP3K1):c.3743A>G (p.Gln1248Arg)
NM_005921.2(MAP3K1):c.4318A>G (p.Ile1440Val)
NM_005921.2(MAP3K1):c.4327G>A (p.Ala1443Thr) rs559360433
NM_005921.2(MAP3K1):c.4415C>T (p.Ser1472Leu) rs776167103
NM_005921.2(MAP3K1):c.4445G>A (p.Arg1482Gln)
NM_005921.2(MAP3K1):c.458C>T (p.Pro153Leu) rs576080629
NM_005921.2(MAP3K1):c.499A>G (p.Lys167Glu)
NM_005921.2(MAP3K1):c.536G>A (p.Arg179His)
NM_005921.2(MAP3K1):c.5CGG[6] (p.Ala5_Gly6insAlaAla)
NM_005921.2(MAP3K1):c.86G>A (p.Gly29Glu) rs1581198964

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