List of variants in gene CFTR reported as likely pathogenic for Hereditary pancreatitis

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)	rs140455771	0.00041
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	rs121908759	0.00039
NM_000492.4(CFTR):c.489+3A>G	rs377729736	0.00016
NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys)	rs397508147	0.00001
NM_000492.4(CFTR):c.1066_1071del (p.Trp356_Ala357del)	rs2116684480
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn)	rs397508198
NM_000492.4(CFTR):c.2908+1G>A	rs1060503164
NM_000492.4(CFTR):c.3907A>T (p.Asn1303Tyr)	rs121909042
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His)	rs113857788

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