ClinVar Miner

List of variants in gene EPM2AIP1, MLH1 studied for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_014805.4(EPM2AIP1):c.*2570G>T rs9311149 0.53114
NM_014805.3(EPM2AIP1):c.-202G>C rs35032294 0.00539
NC_000003.11:g.(?_37034542)_(37035164_?)del
NC_000003.11:g.(?_37034542)_(37035260_?)dup
NC_000003.11:g.(?_37034542)_(37042554_?)del
NC_000003.11:g.(?_37034542)_(37050402_?)del
NC_000003.11:g.(?_37034542)_(37059100_?)del
NC_000003.11:g.(?_37034542)_(37061964_?)del
NC_000003.12:g.(?_36993031)_(37050673_?)del
NC_000003.12:g.(?_36993051)_(36993673_?)dup
NC_000003.12:g.(?_36993051)_(37050653_?)dup

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