ClinVar Miner

List of variants reported for Congenital microvillous atrophy by Mendelics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001080467.3(MYO5B):c.2003+2T>A rs727505394 0.00001
NM_001080467.3(MYO5B):c.617T>C (p.Ile206Thr) rs1166138315 0.00001
NM_001080467.3(MYO5B):c.656G>A (p.Arg219His) rs1053713532 0.00001
NM_001080467.3(MYO5B):c.2470C>T (p.Arg824Cys) rs777038090
NM_001080467.3(MYO5B):c.3276+5G>A rs727505395

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