ClinVar Miner

List of variants in gene combination DEAF1, LOC126861109 reported as pathogenic for not provided

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_021008.4(DEAF1):c.1450C>T (p.Arg484Ter) rs949860707 0.00001
NM_021008.4(DEAF1):c.1346_1347del (p.Glu449fs)
NM_021008.4(DEAF1):c.1383C>A (p.Asn461Lys) rs1049200635
NM_021008.4(DEAF1):c.1412del (p.Lys471fs) rs2133365083
NM_021008.4(DEAF1):c.1438del (p.Ala480fs)

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