ClinVar Miner

List of variants reported as uncertain significance for 46,XY sex reversal 6 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_005921.2(MAP3K1):c.1510G>A (p.Glu504Lys) rs764525244 0.00007
NM_005921.2(MAP3K1):c.3242T>A (p.Met1081Lys) rs754640057 0.00005
NM_005921.2(MAP3K1):c.3275A>G (p.Asp1092Gly) rs374418331 0.00005
NM_005921.2(MAP3K1):c.3266C>G (p.Ser1089Cys) rs755658722 0.00003
NM_005921.2(MAP3K1):c.86G>A (p.Gly29Glu) rs1581198964 0.00003
NM_005921.2(MAP3K1):c.163G>A (p.Ala55Thr) rs769918068 0.00002
NM_005921.2(MAP3K1):c.2420A>G (p.Asn807Ser) rs2530952065 0.00001
NM_005921.2(MAP3K1):c.2702C>G (p.Ser901Cys) rs375363156 0.00001
NM_005921.2(MAP3K1):c.331C>T (p.Pro111Ser) rs1485123901 0.00001
NM_005921.2(MAP3K1):c.3416C>T (p.Ser1139Phe) rs750141197 0.00001
NM_005921.2(MAP3K1):c.4318A>G (p.Ile1440Val) rs202155960 0.00001
NM_005921.2(MAP3K1):c.4327G>A (p.Ala1443Thr) rs559360433 0.00001
NM_005921.2(MAP3K1):c.4445G>A (p.Arg1482Gln) rs751740782 0.00001
NM_005921.2(MAP3K1):c.1136C>T (p.Thr379Ile) rs1747647344
NM_005921.2(MAP3K1):c.138G>T (p.Glu46Asp) rs1051867310
NM_005921.2(MAP3K1):c.13G>C (p.Ala5Pro) rs2530790408
NM_005921.2(MAP3K1):c.1558C>G (p.Gln520Glu) rs1579768504
NM_005921.2(MAP3K1):c.161G>A (p.Arg54Gln) rs1050828981
NM_005921.2(MAP3K1):c.1631A>T (p.Tyr544Phe) rs2530928895
NM_005921.2(MAP3K1):c.1637C>T (p.Thr546Ile)
NM_005921.2(MAP3K1):c.170GGC[5] (p.Arg60dup) rs746070735
NM_005921.2(MAP3K1):c.1913T>G (p.Val638Gly) rs2530935096
NM_005921.2(MAP3K1):c.1970C>G (p.Thr657Arg) rs1579775153
NM_005921.2(MAP3K1):c.1985T>C (p.Leu662Pro) rs2530944125
NM_005921.2(MAP3K1):c.2022C>G (p.Ile674Met) rs2530944287
NM_005921.2(MAP3K1):c.2072G>A (p.Cys691Tyr) rs1554035463
NM_005921.2(MAP3K1):c.2117T>C (p.Leu706Pro)
NM_005921.2(MAP3K1):c.2284_2286dup (p.Asp762_Arg763insAsp)
NM_005921.2(MAP3K1):c.2539A>G (p.Thr847Ala) rs2530952655
NM_005921.2(MAP3K1):c.2558G>A (p.Arg853His)
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.2848G>C (p.Glu950Gln)
NM_005921.2(MAP3K1):c.311G>A (p.Gly104Asp) rs2111727408
NM_005921.2(MAP3K1):c.3133G>C (p.Val1045Leu) rs2111945946
NM_005921.2(MAP3K1):c.3212G>T (p.Ser1071Ile) rs748409131
NM_005921.2(MAP3K1):c.3263G>C (p.Ser1088Thr)
NM_005921.2(MAP3K1):c.3608C>G (p.Pro1203Arg) rs2530958100
NM_005921.2(MAP3K1):c.361G>A (p.Gly121Ser) rs779217907
NM_005921.2(MAP3K1):c.3743A>G (p.Gln1248Arg) rs2530960579
NM_005921.2(MAP3K1):c.3953A>G (p.Asn1318Ser)
NM_005921.2(MAP3K1):c.3978G>A (p.Met1326Ile)
NM_005921.2(MAP3K1):c.4405A>G (p.Thr1469Ala)
NM_005921.2(MAP3K1):c.4415C>T (p.Ser1472Leu) rs776167103
NM_005921.2(MAP3K1):c.458C>T (p.Pro153Leu) rs576080629
NM_005921.2(MAP3K1):c.485G>A (p.Arg162His)
NM_005921.2(MAP3K1):c.499A>G (p.Lys167Glu) rs1179879604
NM_005921.2(MAP3K1):c.536G>A (p.Arg179His) rs1446304905
NM_005921.2(MAP3K1):c.564A>T (p.Lys188Asn)
NM_005921.2(MAP3K1):c.5CGG[6] (p.Ala5_Gly6insAlaAla) rs779149827

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