List of variants in gene CFTR reported as uncertain significance for Hereditary pancreatitis

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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: 33

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	rs1800100	0.00625
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)	rs1800110	0.00106
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)	rs74571530	0.00090
NM_000492.4(CFTR):c.509G>A (p.Arg170His)	rs1800079	0.00045
NM_000492.4(CFTR):c.958T>G (p.Leu320Val)	rs144476686	0.00043
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)	rs201386642	0.00040
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	rs147422190	0.00034
NM_000492.4(CFTR):c.31G>A (p.Val11Ile)	rs1800072	0.00019
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser)	rs145900055	0.00019
NM_000492.4(CFTR):c.489+3A>G	rs377729736	0.00016
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)	rs121909021	0.00015
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met)	rs143860237	0.00011
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)	rs149353983	0.00010
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn)	rs146947665	0.00006
NM_000492.4(CFTR):c.1450C>T (p.His484Tyr)	rs397508210	0.00003
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly)	rs145449046	0.00003
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val)	rs397508670	0.00003
NM_000492.4(CFTR):c.2672A>G (p.Asp891Gly)	rs766181463	0.00001
NM_000492.4(CFTR):c.3444C>A (p.Asn1148Lys)	rs397508565	0.00001
NM_000492.4(CFTR):c.*842del	rs886061953
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)	rs1800086
NM_000492.4(CFTR):c.109A>T (p.Ile37Leu)	rs759721412
NM_000492.4(CFTR):c.1209+80G>A	rs948980243
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)	rs77646904
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)	rs1800097
NM_000492.4(CFTR):c.1744A>T (p.Thr582Ser)	rs397508292
NM_000492.4(CFTR):c.1934T>C (p.Met645Thr)	rs377731410
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe)	rs780187979
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)	rs201864483
NM_000492.4(CFTR):c.2914A>G (p.Ile972Val)	rs2116069322
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)	rs397508617
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys)	rs578029902
NM_000492.4(CFTR):c.640C>G (p.Leu214Val)	rs188457893

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