List of variants in gene DNA2 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001080449.3(DNA2):c.1711dup (p.Ile571fs)	rs1469135249	0.00001
NM_001080449.3(DNA2):c.143T>C (p.Leu48Pro)	rs2494019349
NM_001080449.3(DNA2):c.2208+2456_2403-18del
NM_001080449.3(DNA2):c.442-768_587+648del
NM_001080449.3(DNA2):c.588-2214A>G	rs2493999571

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