ClinVar Miner

List of variants reported as likely benign for Congenital microvillous atrophy by Illumina Laboratory Services, Illumina

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001080467.3(MYO5B):c.2076T>C (p.Ala692=) rs200559863 0.00470
NM_001080467.3(MYO5B):c.*2538G>A rs183150275 0.00425
NM_001080467.3(MYO5B):c.2203-7T>C rs151267350 0.00376
NM_001080467.3(MYO5B):c.5395-6C>T rs140275825 0.00317
NM_001080467.3(MYO5B):c.1057-4A>G rs138582195 0.00231
NM_001080467.3(MYO5B):c.4481C>T (p.Ser1494Leu) rs139632666 0.00202
NM_001080467.3(MYO5B):c.2343G>C (p.Lys781Asn) rs61737448 0.00187
NM_001080467.3(MYO5B):c.3828C>T (p.Leu1276=) rs201760142 0.00175
NM_001080467.3(MYO5B):c.167G>T (p.Arg56Leu) rs138743872 0.00162
NM_001080467.3(MYO5B):c.1031G>A (p.Arg344His) rs189027956 0.00153
NM_001080467.3(MYO5B):c.4674C>G (p.His1558Gln) rs186428920 0.00105
NM_001080467.3(MYO5B):c.3031G>A (p.Asp1011Asn) rs201592338 0.00103
NM_001080467.3(MYO5B):c.*1728A>T rs138593222 0.00051
NM_001080467.3(MYO5B):c.2415-6C>G rs2298625 0.00041
NM_001080467.3(MYO5B):c.*2571A>G rs190516330 0.00027
NM_001080467.3(MYO5B):c.1057-15C>T rs149299559 0.00022
NM_001080467.3(MYO5B):c.2702G>A (p.Arg901Gln) rs199782770 0.00006
NM_001080467.3(MYO5B):c.1322+11C>T rs142044259 0.00003

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