ClinVar Miner

List of variants in gene LOC129993918, MAP3K1 studied for 46,XY sex reversal 6

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005921.2(MAP3K1):c.351G>C (p.Ala117=) rs28710284 0.78277
NM_005921.2(MAP3K1):c.165G>A (p.Ala55=) rs189140884 0.02124
NM_005921.2(MAP3K1):c.45G>A (p.Pro15=) rs192120973 0.02109
NM_005921.2(MAP3K1):c.81C>T (p.Gly27=) rs185050655 0.00789
NM_005921.2(MAP3K1):c.233T>C (p.Leu78Pro) rs572205361 0.00167
NM_005921.2(MAP3K1):c.234C>T (p.Leu78=) rs542526689 0.00150
NM_005921.2(MAP3K1):c.15G>A (p.Ala5=) rs759046760 0.00141
NM_005921.2(MAP3K1):c.304G>A (p.Gly102Arg) rs531377824 0.00071
NM_005921.2(MAP3K1):c.381G>T (p.Ser127=) rs1053991933 0.00066
NM_005921.2(MAP3K1):c.138G>A (p.Glu46=) rs1051867310 0.00049
NM_005921.2(MAP3K1):c.228G>C (p.Gln76His) rs560095837 0.00013
NM_005921.2(MAP3K1):c.44C>G (p.Pro15Arg) rs765282250 0.00012
NM_005921.2(MAP3K1):c.394G>C (p.Asp132His) rs557606535 0.00011
NM_005921.2(MAP3K1):c.185T>G (p.Leu62Arg) rs1423534461 0.00007
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.293C>G (p.Ala98Gly) rs1334509281 0.00001
NM_005921.2(MAP3K1):c.331C>T (p.Pro111Ser) rs1485123901 0.00001
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.152G>C (p.Gly51Ala)
NM_005921.2(MAP3K1):c.161G>A (p.Arg54Gln) rs1050828981
NM_005921.2(MAP3K1):c.170GGC[5] (p.Arg60dup) rs746070735
NM_005921.2(MAP3K1):c.201T>C (p.Ser67=) rs2111726323
NM_005921.2(MAP3K1):c.233_234delinsCT (p.Leu78Pro) rs1554028405
NM_005921.2(MAP3K1):c.261C>G (p.Ser87=) rs1188647175
NM_005921.2(MAP3K1):c.30G>T (p.Ser10=)
NM_005921.2(MAP3K1):c.311G>A (p.Gly104Asp) rs2111727408
NM_005921.2(MAP3K1):c.347C>T (p.Ala116Val) rs1046935979
NM_005921.2(MAP3K1):c.352A>T (p.Ser118Cys)
NM_005921.2(MAP3K1):c.361G>A (p.Gly121Ser) rs779217907
NM_005921.2(MAP3K1):c.429C>T (p.Pro143=) rs1211934332
NM_005921.2(MAP3K1):c.450C>T (p.Ala150=)
NM_005921.2(MAP3K1):c.458C>T (p.Pro153Leu) rs576080629
NM_005921.2(MAP3K1):c.5CGG[5] (p.Ala5dup) rs779149827
NM_005921.2(MAP3K1):c.5CGG[6] (p.Ala5_Gly6insAlaAla) rs779149827
NM_005921.2(MAP3K1):c.89C>A (p.Ala30Asp) rs971549264

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.