List of variants reported as uncertain significance for 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency by Invitae

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000348.4(SRD5A2):c.331C>A (p.Leu111Ile)	rs200206626	0.00005
NM_000348.4(SRD5A2):c.537G>T (p.Arg179Ser)	rs767928056	0.00004
NM_000348.4(SRD5A2):c.143C>T (p.Pro48Leu)	rs61748122	0.00003
NM_000348.4(SRD5A2):c.548-9T>G	rs1057519061	0.00002
NC_000002.11:g.(?_31598226)_(31805969_?)dup
NC_000002.11:g.(?_31751246)_(31805989_?)dup
NM_000348.4(SRD5A2):c.25C>T (p.Pro9Ser)	rs868322910
NM_000348.4(SRD5A2):c.284C>T (p.Thr95Ile)
NM_000348.4(SRD5A2):c.382T>A (p.Tyr128Asn)
NM_000348.4(SRD5A2):c.385T>G (p.Tyr129Asp)	rs1553324169
NM_000348.4(SRD5A2):c.403G>A (p.Glu135Lys)
NM_000348.4(SRD5A2):c.571G>A (p.Gly191Arg)
NM_000348.4(SRD5A2):c.614C>A (p.Ala205Asp)
NM_000348.4(SRD5A2):c.61G>C (p.Gly21Arg)	rs1265216982

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