List of variants reported as pathogenic for Hereditary pancreatitis by Sema4, Sema4

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)	rs17107315	0.00797
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)	rs77010898	0.00019
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	rs80034486	0.00016
NM_000492.3(CFTR):c.3718-2477C>T	rs75039782	0.00011
NM_000492.4(CFTR):c.2657+5G>A	rs80224560	0.00006
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	rs374705585	0.00002
NM_002769.5(PRSS1):c.365G>A (p.Arg122His)	rs111033565	0.00001
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile)	rs111033566	0.00001
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter)	rs121909034

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