ClinVar Miner

List of variants reported as uncertain significance for Diarrhea with Microvillus Atrophy by Illumina Laboratory Services, Illumina

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001080467.3(MYO5B):c.2644C>T (p.Arg882Trp) rs777961930 0.00007
NM_001080467.3(MYO5B):c.*1056dup rs34780331
NM_001080467.3(MYO5B):c.*1225del rs886053864
NM_001080467.3(MYO5B):c.*1347dup rs886053863
NM_001080467.3(MYO5B):c.*175dup rs149289525
NM_001080467.3(MYO5B):c.*2136TCTTC[1] rs886053860
NM_001080467.3(MYO5B):c.*2164_*2165insA rs113453539
NM_001080467.3(MYO5B):c.*2705dup rs886053856
NM_001080467.3(MYO5B):c.*3294_*3295insA rs368075985
NM_001080467.3(MYO5B):c.*3338_*3339insAAAG rs375099918
NM_001080467.3(MYO5B):c.-257GCGGC[3] rs886053884
NM_001080467.3(MYO5B):c.2004-11_2004-10del rs771242570
NM_001080467.3(MYO5B):c.2004-11del rs886053881
NM_001080467.3(MYO5B):c.4474A>G (p.Met1492Val) rs886053875

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