List of variants reported as pathogenic for Meier-Gorlin syndrome 3

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_014321.4(ORC6):c.2T>C (p.Met1Thr)	rs146795505	0.00028
NM_014321.4(ORC6):c.449+5G>A	rs572314014	0.00016
NM_014321.4(ORC6):c.1A>G (p.Met1Val)	rs777153067
NM_014321.4(ORC6):c.257_258del (p.Ser85_Phe86insTer)	rs786205258
NM_014321.4(ORC6):c.602_605del (p.Lys201fs)	rs879255692
NM_014321.4(ORC6):c.65G>A (p.Arg22Lys)	rs2143010039
NM_014321.4(ORC6):c.695A>C (p.Tyr232Ser)	rs387906969
NM_014321.4(ORC6):c.71C>T (p.Ala24Val)	rs1279789023

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