List of variants reported as likely pathogenic for pancreas disorder by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp)	rs121909293	0.00386
NM_007272.3(CTRC):c.640-12G>A	rs183053579	0.00194
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)	rs74571530	0.00090
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)	rs140455771	0.00041
NM_007272.3(CTRC):c.746C>T (p.Pro249Leu)	rs142560329	0.00022
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr)	rs142773283	0.00019
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)	rs139468767	0.00016
NM_000492.4(CFTR):c.2657+2_2657+3insA	rs397508414	0.00009
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp)	rs193922497	0.00007
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)	rs151048781	0.00006
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)	rs1800114	0.00005
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)	rs73215912	0.00003
NM_007272.3(CTRC):c.181G>A (p.Gly61Arg)	rs769482036	0.00003
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser)	rs202058123	0.00003
NM_007272.3(CTRC):c.494-1G>C	rs766917452	0.00001
NM_007272.3(CTRC):c.132G>A (p.Gln44=)
NM_007272.3(CTRC):c.231-2A>G	rs1570783505
NM_007272.3(CTRC):c.429_430delinsTGGC (p.Glu144fs)	rs1570784592
NM_007272.3(CTRC):c.464G>A (p.Cys155Tyr)
NM_007272.3(CTRC):c.494-2A>G	rs1708187577
NM_007272.3(CTRC):c.520C>T (p.Gln174Ter)
NM_007272.3(CTRC):c.716C>G (p.Ser239Cys)

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