ClinVar Miner

List of variants studied for Congenital microvillous atrophy by OMIM

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001080467.3(MYO5B):c.3163_3165dup (p.Leu1055dup) rs397841722 0.31640
NM_001080467.3(MYO5B):c.1125G>A (p.Trp375Ter) rs121908104 0.00003
NM_001080467.3(MYO5B):c.1347del (p.Phe450fs) rs1298330895 0.00002
NM_001080467.3(MYO5B):c.1202G>A (p.Arg401His) rs1555648414 0.00001
NM_001080467.3(MYO5B):c.656G>A (p.Arg219His) rs1053713532 0.00001
NM_001080467.3(MYO5B):c.1323-2A>G rs1568049625
NM_001080467.3(MYO5B):c.1363_1364insGTTCTGTAA (p.Cys454_Ile455insSerSerVal)
NM_001080467.3(MYO5B):c.1540T>C (p.Cys514Arg) rs760515993
NM_001080467.3(MYO5B):c.1966C>T (p.Arg656Cys) rs121908105
NM_001080467.3(MYO5B):c.1979C>T (p.Pro660Leu) rs121908106
NM_001080467.3(MYO5B):c.2259_2262dup (p.Tyr755fs) rs2144150824
NM_001080467.3(MYO5B):c.2330del (p.Gly777fs) rs1568025953
NM_001080467.3(MYO5B):c.28-2A>G rs2144417768
NM_001080467.3(MYO5B):c.323T>G (p.Val108Gly) rs121908103
NM_001080467.3(MYO5B):c.4028T>C (p.Leu1343Pro) rs779188563
NM_001080467.3(MYO5B):c.4366C>T (p.Gln1456Ter) rs2144048741
NM_001080467.3(MYO5B):c.4460-1G>C rs2144041940

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