List of variants in gene SRD5A2 reported by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr)	rs9282858	0.02117
NM_000348.4(SRD5A2):c.*43G>A	rs28383082	0.00951
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)	rs9332964	0.00016
NM_000348.4(SRD5A2):c.692A>G (p.His231Arg)	rs121434251	0.00016
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser)	rs121434247	0.00015
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser)	rs121434250	0.00015
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg)	rs368386747	0.00009
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln)	rs9332967	0.00009
NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg)	rs121434252	0.00006
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter)	rs121434248	0.00004
NM_000348.4(SRD5A2):c.271T>G (p.Tyr91Asp)	rs201175894	0.00003
NM_000348.4(SRD5A2):c.534C>A (p.Tyr178Ter)	rs1200261940	0.00003
NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser)	rs763296857	0.00003
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter)	rs9332960	0.00002
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp)	rs121434246	0.00002
NM_000348.4(SRD5A2):c.548-9T>G	rs1057519061	0.00002
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys)	rs756853742	0.00002
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser)	rs9332961	0.00002
NM_000348.4(SRD5A2):c.169G>C (p.Glu57Gln)	rs750444774	0.00001
NM_000348.4(SRD5A2):c.554T>C (p.Leu185Ser)	rs574377752	0.00001
NM_000348.4(SRD5A2):c.59T>C (p.Leu20Pro)	rs761824859	0.00001
NM_000348.4(SRD5A2):c.205G>T (p.Ala69Ser)	rs1553329443
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His)	rs201175894
NM_000348.4(SRD5A2):c.282-2A>G	rs1340425455
NM_000348.4(SRD5A2):c.446-10_446-8del	rs758063160
NM_000348.4(SRD5A2):c.537G>A (p.Arg179=)	rs767928056
NM_000348.4(SRD5A2):c.548-5C>G	rs753272225
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr)	rs121434249
NM_000348.4(SRD5A2):c.729del (p.Lys244fs)	rs1553323033

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