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

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000348.4(SRD5A2):c.265C>G (p.Leu89Val)	rs523349	0.71022
NM_000348.4(SRD5A2):c.281+15T>C	rs522638	0.68085
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr)	rs9282858	0.02117
NM_000348.4(SRD5A2):c.548-18C>T	rs28383063	0.00290
NM_000348.4(SRD5A2):c.594C>T (p.Ile198=)	rs28383064	0.00287
NM_000348.4(SRD5A2):c.337C>G (p.Leu113Val)	rs28383048	0.00188
NM_000348.4(SRD5A2):c.502C>T (p.Arg168Cys)	rs374399753	0.00075
NM_000348.4(SRD5A2):c.696T>C (p.His232=)	rs9332965	0.00018
NM_000348.4(SRD5A2):c.441C>T (p.Ser147=)	rs201018300	0.00017
NM_000348.4(SRD5A2):c.281+20G>A	rs61750392	0.00012
NM_000348.4(SRD5A2):c.95G>T (p.Gly32Val)	rs1328422263	0.00001
NM_000348.4(SRD5A2):c.548-13C>T	rs563086989
NM_000348.4(SRD5A2):c.698+7T>G
NM_000348.4(SRD5A2):c.90dup (p.Ser31fs)	rs142200057
NM_000348.4(SRD5A2):c.92C>T (p.Ser31Phe)
NM_000348.4(SRD5A2):c.94G>A (p.Gly32Ser)

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