ClinVar Miner

List of variants in gene NR5A1 reported as pathogenic for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NC_000009.12:g.(?_124481358)_(124505411_?)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.1106_1109del (p.Val369fs)
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.151G>T (p.Glu51Ter) rs775441984
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.234G>A (p.Met78Ile) rs104894125
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.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.48C>A (p.Cys16Ter) rs104894123
NM_004959.5(NR5A1):c.666del (p.Asn222fs) rs606231206
NM_004959.5(NR5A1):c.877G>A (p.Asp293Asn) rs121918655
NM_004959.5(NR5A1):c.983G>T (p.Gly328Val) rs2131279852

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