ClinVar Miner

List of variants in gene PSMC3IP studied for 46 XX gonadal dysgenesis

Included ClinVar conditions (13):

46,XX gonadal dysgenesis
46,XX sex reversal 2
46,XX sex reversal 4
46,XX sex reversal, type 1; 46,XY sex reversal, type 1
OVARIAN DYSGENESIS 5
OVARIAN DYSGENESIS 6
OVARIAN DYSGENESIS 7
OVARIAN DYSGENESIS 8
Ovarian dysgenesis 1
Ovarian dysgenesis 2
Ovarian dysgenesis 3
Premature ovarian failure 4
Serkal syndrome

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

Total variants: 2

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HGVS	dbSNP
NM_001256016.1(PSMC3IP):c.-291C>T
PSMC3IP, 3-BP DEL, 600GAG

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