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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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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.1145del (p.Lys382fs)
NM_004153.4(ORC1):c.313C>T (p.Arg105Trp)	rs778980446
NM_004153.4(ORC1):c.688dup (p.Thr230fs)	rs2524163534
NM_004153.4(ORC1):c.961C>T (p.Arg321Ter)	rs367611068
NM_004153.4(ORC1):c.[2483C>T;2484del]

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