List of variants in gene CTRC 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: 21

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HGVS	dbSNP	gnomAD frequency
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp)	rs121909293	0.00374
NM_007272.3(CTRC):c.640-12G>A	rs183053579	0.00194
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr)	rs515726209	0.00067
NM_007272.3(CTRC):c.746C>T (p.Pro249Leu)	rs142560329	0.00020
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser)	rs202058123	0.00003
NM_007272.3(CTRC):c.181G>A (p.Gly61Arg)	rs769482036	0.00002
NM_007272.3(CTRC):c.494-1G>C	rs766917452	0.00001
NM_007272.3(CTRC):c.85C>T (p.Arg29Ter)	rs747905422	0.00001
NM_007272.3(CTRC):c.129G>A (p.Trp43Ter)	rs2526289681
NM_007272.3(CTRC):c.132G>A (p.Gln44=)	rs901779500
NM_007272.3(CTRC):c.133-1G>T	rs1557508272
NM_007272.3(CTRC):c.231-2A>G	rs1570783505
NM_007272.3(CTRC):c.2T>C (p.Met1Thr)	rs1455019932
NM_007272.3(CTRC):c.429_430delinsTGGC (p.Glu144fs)	rs1570784592
NM_007272.3(CTRC):c.464G>A (p.Cys155Tyr)	rs2526297384
NM_007272.3(CTRC):c.494-1G>A	rs766917452
NM_007272.3(CTRC):c.494-2A>G	rs1708187577
NM_007272.3(CTRC):c.520C>T (p.Gln174Ter)	rs1290349619
NM_007272.3(CTRC):c.627dup (p.Ser210fs)	rs1708190814
NM_007272.3(CTRC):c.649G>C (p.Gly217Arg)	rs202058123
NM_007272.3(CTRC):c.716C>G (p.Ser239Cys)

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