List of variants in gene MCM9 studied for 46,XX ovarian dysgenesis-short stature syndrome

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_017696.3(MCM9):c.1673G>C (p.Cys558Ser)	rs284921	0.88580
NM_017696.3(MCM9):c.1272G>A (p.Arg424=)	rs151149424	0.00474
NM_017696.3(MCM9):c.503G>A (p.Arg168Gln)	rs34665713	0.00058
NM_017696.3(MCM9):c.1732+2T>C	rs587777871	0.00001
NM_017696.3(MCM9):c.220C>T (p.Arg74Ter)	rs760702305	0.00001
NM_017696.3(MCM9):c.394C>T (p.Arg132Ter)	rs587777872	0.00001
NM_017696.3(MCM9):c.1151-1G>A
NM_017696.3(MCM9):c.139_140del (p.Leu47fs)
NM_017696.3(MCM9):c.1483G>T (p.Glu495Ter)	rs1060505058
NM_017696.3(MCM9):c.1529-7C>G
NM_017696.3(MCM9):c.1556G>A (p.Trp519Ter)
NM_017696.3(MCM9):c.672_673delinsC (p.Glu225fs)

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