ClinVar Miner

List of variants reported as uncertain significance for 46,XY sex reversal 2 by Invitae

Included ClinVar conditions (2):

46,XY sex reversal, type 2
Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal, type 2

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Total variants: 3

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HGVS	dbSNP
NC_000023.11:g.(?_30304559)_(30309383_?)dup
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro)	rs104894899
NM_000475.5(NR0B1):c.155A>C (p.Glu52Ala)

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