ClinVar Miner

List of variants reported as uncertain significance for Hereditary pancreatitis by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_007272.3(CTRC):c.703G>A (p.Val235Ile) rs140993290 0.00049
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val) rs397508617 0.00022
NM_000492.4(CFTR):c.754G>C (p.Ala252Pro) rs748582435 0.00001
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn) rs397508725
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys) rs578029902
NM_002769.5(PRSS1):c.40C>G (p.Leu14Val) rs747228052
NM_002769.5(PRSS1):c.547A>G (p.Met183Val) rs200070487
NM_016103.4(SAR1B):c.344T>C (p.Leu115Pro) rs2150050070

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