ClinVar Miner

List of variants in gene SYNE4 studied for autosomal recessive nonsyndromic hearing loss 76

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001039876.3(SYNE4):c.834G>C (p.Gln278His) rs2285422 0.95594
NM_001039876.3(SYNE4):c.225G>A (p.Pro75=) rs2285424 0.30451
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter) rs200484521 0.00066
NM_001039876.3(SYNE4):c.601C>A (p.Leu201Met) rs200083160 0.00011
NM_001039876.3(SYNE4):c.228_229del (p.Trp77fs) rs587777072 0.00001
NM_001039876.3(SYNE4):c.336C>A (p.Cys112Ter)
NM_001039876.3(SYNE4):c.458G>A (p.Arg153His)

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