List of variants reported as pathogenic for premature ovarian failure 1 by Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_003579.4(RAD54L):c.1138C>T (p.Arg380Trp)	rs150138364	0.00006
NM_000155.4(GALT):c.667C>T (p.Arg223Cys)	rs111033750	0.00005
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)	rs200928781	0.00002
NM_000303.3(PMM2):c.323C>T (p.Ala108Val)	rs200503569	0.00001
NM_001282717.2(STAG3):c.1069C>T (p.Arg357Ter)	rs774733445
NM_004972.4(JAK2):c.436G>A (p.Asp146Asn)	rs1299892808
NM_207189.4(BRDT):c.1538del (p.Asp513fs)	rs1188709614

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