ClinVar Miner

List of variants studied for Hereditary pancreatitis by OMIM

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_003122.5(SPINK1):c.-191-24G>A rs191068215 0.00012
NM_002769.5(PRSS1):c.235G>A (p.Glu79Lys) rs111033564 0.00010
NM_002769.5(PRSS1):c.361G>A (p.Ala121Thr) rs199422123 0.00002
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys) rs111033568 0.00002
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_001379610.1(SPINK1):c.2T>C (p.Met1Thr) rs104893938
NM_001379610.1(SPINK1):c.41T>C (p.Leu14Pro) rs104893939
NM_001379610.1(SPINK1):c.41T>G (p.Leu14Arg) rs104893939
NM_002769.4(PRSS1):c.-30_-28delTCC rs386134264
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser) rs144422014
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys) rs387906698
NM_002769.5(PRSS1):c.365_366delinsAT (p.Arg122His) rs267606982
NM_002769.5(PRSS1):c.68A>G (p.Lys23Arg) rs111033567
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_003122.5(SPINK1):c.-191-129_56-932del
PRSS1, TRIPLICATION

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