List of variants in gene ANAPC1 reported as pathogenic for Rothmund-Thomson syndrome

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_022662.4(ANAPC1):c.2705-198C>T	rs999743155	0.00002
NM_022662.4(ANAPC1):c.4373+1G>A	rs1267333057	0.00001
NM_022662.4(ANAPC1):c.1778dup (p.Asn593fs)	rs1573454278

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