ClinVar Miner

List of variants studied for Hereditary pancreatitis by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_001868.4(CPA1):c.847G>A (p.Glu283Lys) rs782561684 0.00002
NM_001379610.1(SPINK1):c.23T>C (p.Leu8Pro)
NM_002769.5(PRSS1):c.135C>A (p.Tyr45Ter) rs1798623321
NM_002769.5(PRSS1):c.298G>C (p.Asp100His) rs199507985

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