ClinVar Miner

List of variants in gene combination PRSS1, TRB reported as likely pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NC_000007.13:g.(?_142457132)_(142460891_?)dup
NC_000007.13:g.(?_142457319)_(142460927_?)dup
NC_000007.13:g.(?_142459605)_(142460891_?)dup
NC_000007.13:g.(?_142459615)_(142460871_?)dup
NC_000007.13:g.(?_142459615)_(142460881_?)dup
NC_000007.14:g.(?_142749147)_(142753020_?)dup
NC_000007.14:g.(?_142749475)_(142753030_?)dup
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys) rs387906698
NM_002769.5(PRSS1):c.68A>G (p.Lys23Arg) rs111033567

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