ClinVar Miner

List of variants studied for 46,XY partial gonadal dysgenesis by Mendelics

Included ClinVar conditions (12):

46,XY partial gonadal dysgenesis
46,XY sex reversal 10
46,XY sex reversal 2
46,XY sex reversal 3
46,XY sex reversal 4
46,XY sex reversal 6
46,XY sex reversal 9
Atrial septal defect 2; Tetralogy of Fallot; Ventricular septal defect 1; Atrioventricular septal defect 4; Testicular anomalies with or without congenital heart disease
Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2
Diaphragmatic hernia 3; Tetralogy of Fallot; 46,XY sex reversal 9
Oligosynaptic infertility; 46,XY sex reversal 3
Testicular anomalies with or without congenital heart disease

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly)	rs28374544	0.04474
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)	rs187043152	0.00306
NM_012082.4(ZFPM2):c.3086A>T (p.Lys1029Ile)	rs201729935	0.00024

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