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

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_016556.4(PSMC3IP):c.189G>T (p.Lys63Asn)	rs139657728	0.00046
NM_016556.4(PSMC3IP):c.-35C>T	rs369453385	0.00001
D90H
NM_016556.4(PSMC3IP):c.203AGA[1] (p.Lys69del)
NM_016556.4(PSMC3IP):c.215T>C (p.Phe72Ser)
NM_016556.4(PSMC3IP):c.310C>T (p.Gln104Ter)
NM_016556.4(PSMC3IP):c.338-15C>G	rs2292752
PSMC3IP, 2-BP DEL, 496CT
PSMC3IP, 2-BP INS, 430GA
PSMC3IP, TYR163TER
c.597+1G-T

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