ClinVar Miner

List of variants in gene combination PRSS1, TRB reported as pathogenic for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_002769.5(PRSS1):c.86A>C (p.Asn29Thr) rs111033566 0.00153
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00024
NM_002769.5(PRSS1):c.235G>A (p.Glu79Lys) rs111033564 0.00010
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys) rs111033568 0.00002
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NC_000007.13:g.(?_142457132)_(142457395_?)dup
NC_000007.13:g.(?_142457132)_(142460438_?)dup
NC_000007.13:g.(?_142457330)_(142460424_?)dup
NC_000007.14:g.142749126_142753040dup
NM_002769.4(PRSS1):c.-30_-28delTCC rs386134264
NM_002769.5(PRSS1):c.116T>C (p.Val39Ala) rs397507439
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

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