ClinVar Miner

List of variants in gene NR5A1 studied for 46,XY complete gonadal dysgenesis

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_004959.5(NR5A1):c.712G>A (p.Asp238Asn) rs780568525 0.00006
NM_004959.5(NR5A1):c.250C>T (p.Arg84Cys) rs1832458239 0.00001
NC_000009.12:g.(?_124481358)_(124505411_?)del
NC_000009.12:g.(?_124482420)_(124482928_?)del
NM_004959.5(NR5A1):c.1048C>T (p.Arg350Trp) rs754336683
NM_004959.5(NR5A1):c.104_105delinsAA (p.Gly35Glu) rs121918654
NM_004959.5(NR5A1):c.1058_1065del (p.Glu353fs)
NM_004959.5(NR5A1):c.1073T>C (p.Leu358Pro) rs2131277648
NM_004959.5(NR5A1):c.1090G>T (p.Asp364Tyr) rs2131277629
NM_004959.5(NR5A1):c.1106_1109del (p.Val369fs)
NM_004959.5(NR5A1):c.1138+5G>A rs1832300085
NM_004959.5(NR5A1):c.11C>A (p.Ser4Ter) rs145936761
NM_004959.5(NR5A1):c.1210T>G (p.Tyr404Asp) rs863224904
NM_004959.5(NR5A1):c.1310T>A (p.Leu437Gln) rs104894120
NM_004959.5(NR5A1):c.140A>G (p.Tyr47Cys) rs2131289790
NM_004959.5(NR5A1):c.151G>T (p.Glu51Ter) rs775441984
NM_004959.5(NR5A1):c.15C>A (p.Tyr5Ter)
NM_004959.5(NR5A1):c.164G>A (p.Cys55Tyr)
NM_004959.5(NR5A1):c.164del (p.Cys55fs)
NM_004959.5(NR5A1):c.18del (p.Asp6fs) rs606231205
NM_004959.5(NR5A1):c.19G>T (p.Glu7Ter) rs2131290040
NM_004959.5(NR5A1):c.205C>T (p.Arg69Cys) rs2131289737
NM_004959.5(NR5A1):c.230G>C (p.Gly77Ala)
NM_004959.5(NR5A1):c.234G>A (p.Met78Ile) rs104894125
NM_004959.5(NR5A1):c.236_238del (p.Arg79del) rs1554721859
NM_004959.5(NR5A1):c.244+1G>T rs2131289685
NM_004959.5(NR5A1):c.247G>A (p.Val83Met)
NM_004959.5(NR5A1):c.251G>A (p.Arg84His) rs375469069
NM_004959.5(NR5A1):c.259C>T (p.Arg87Cys) rs866712684
NM_004959.5(NR5A1):c.271G>A (p.Gly91Ser) rs104894126
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln) rs104894119
NM_004959.5(NR5A1):c.284T>C (p.Phe95Ser) rs2131287358
NM_004959.5(NR5A1):c.34_38delinsGACCTGGACCTGT (p.Leu12fs) rs1554721883
NM_004959.5(NR5A1):c.390del (p.Pro131fs) rs606231207
NM_004959.5(NR5A1):c.3G>A (p.Met1Ile) rs121918656
NM_004959.5(NR5A1):c.43G>A (p.Val15Met) rs104894124
NM_004959.5(NR5A1):c.44T>C (p.Val15Ala) rs2131290009
NM_004959.5(NR5A1):c.455_536del (p.Leu152fs) rs1588621944
NM_004959.5(NR5A1):c.48C>A (p.Cys16Ter) rs104894123
NM_004959.5(NR5A1):c.571C>T (p.Arg191Cys)
NM_004959.5(NR5A1):c.616C>A (p.Gln206Lys)
NM_004959.5(NR5A1):c.61T>G (p.Ser21Ala)
NM_004959.5(NR5A1):c.666del (p.Asn222fs) rs606231206
NM_004959.5(NR5A1):c.721C>T (p.Arg241Trp) rs1832445795
NM_004959.5(NR5A1):c.841C>T (p.Arg281Cys)
NM_004959.5(NR5A1):c.877G>A (p.Asp293Asn) rs121918655
NM_004959.5(NR5A1):c.89G>A (p.Cys30Tyr) rs2131289962
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys) rs1057517779
NM_004959.5(NR5A1):c.938G>T (p.Arg313Leu) rs1554721235
NM_004959.5(NR5A1):c.97T>C (p.Cys33Arg) rs1832496590
NM_004959.5(NR5A1):c.983G>T (p.Gly328Val) rs2131279852
NM_004959.5(NR5A1):c.990G>A (p.Glu330=) rs1588618614

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