List of variants in gene ORC1 reported as pathogenic for Meier-Gorlin syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln)	rs143141689	0.00016
NM_004153.4(ORC1):c.1996C>T (p.Arg666Trp)	rs201253919	0.00010
NM_004153.4(ORC1):c.2159G>A (p.Arg720Gln)	rs387906828	0.00002
NM_004153.4(ORC1):c.1482-2A>G	rs1378348220	0.00001
NM_004153.4(ORC1):c.217G>A (p.Glu73Lys)	rs373671398	0.00001
NM_004153.4(ORC1):c.266T>C (p.Phe89Ser)	rs387906827	0.00001
NM_004153.4(ORC1):c.380A>G (p.Glu127Gly)	rs387906826	0.00001
NC_000001.11:g.52369378_52373625del
NM_004153.4(ORC1):c.1865T>C (p.Leu622Pro)	rs2147923128
NM_004153.4(ORC1):c.1999_2000delinsA (p.Val667fs)	rs1557573504
NM_004153.4(ORC1):c.2193_2194del (p.Glu731fs)	rs1162770123
NM_004153.4(ORC1):c.237del (p.Pro80fs)	rs1647490038
NM_004153.4(ORC1):c.403-2A>C	rs2147941262

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