List of variants in gene RPA1 reported as pathogenic for Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6

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_002945.5(RPA1):c.680T>C (p.Val227Ala)	rs570041689	0.00001
NM_002945.5(RPA1):c.718G>A (p.Glu240Lys)	rs916648829
NM_002945.5(RPA1):c.808A>G (p.Thr270Ala)	rs2151286956

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