List of variants in gene NR5A1 reported as uncertain significance for 46,XY sex reversal 3

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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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.571C>T (p.Arg191Cys)	rs1253324106	0.00001
NM_004959.5(NR5A1):c.101A>C (p.Lys34Thr)
NM_004959.5(NR5A1):c.1138+5G>A	rs1832300085
NM_004959.5(NR5A1):c.164G>A (p.Cys55Tyr)	rs184724257
NM_004959.5(NR5A1):c.205C>T (p.Arg69Cys)	rs2131289737
NM_004959.5(NR5A1):c.230G>C (p.Gly77Ala)	rs2538687093
NM_004959.5(NR5A1):c.236_238del (p.Arg79del)	rs1554721859
NM_004959.5(NR5A1):c.284T>C (p.Phe95Ser)	rs2131287358
NM_004959.5(NR5A1):c.616C>A (p.Gln206Lys)	rs752093373
NM_004959.5(NR5A1):c.721C>T (p.Arg241Trp)	rs1832445795
NM_004959.5(NR5A1):c.89G>A (p.Cys30Tyr)	rs2131289962

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