List of variants reported as likely pathogenic for Congenital microvillous atrophy

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001080467.3(MYO5B):c.1347del (p.Phe450fs)	rs1298330895	0.00002
NM_001080467.3(MYO5B):c.1303G>A (p.Gly435Arg)	rs1283622290	0.00001
NM_001080467.3(MYO5B):c.3277-2A>G	rs1212171741	0.00001
NM_001080467.3(MYO5B):c.617T>C (p.Ile206Thr)	rs1166138315	0.00001
NM_001080467.3(MYO5B):c.1829C>A (p.Ser610Ter)	rs753160864
NM_001080467.3(MYO5B):c.1983C>G (p.Asn661Lys)
NM_001080467.3(MYO5B):c.2090+3A>T	rs2144194879
NM_001080467.3(MYO5B):c.284_285del (p.Glu95fs)	rs2144390075
NM_001080467.3(MYO5B):c.311-1G>C	rs1271807828
NM_001080467.3(MYO5B):c.3276+5G>A	rs727505395
NM_001080467.3(MYO5B):c.4765G>T (p.Glu1589Ter)	rs762039116
NM_001080467.3(MYO5B):c.5313+1G>C	rs1555793103
NM_001080467.3(MYO5B):c.947G>T (p.Gly316Val)	rs971419104

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