ClinVar Miner

List of variants in gene SLC44A4 studied for nonsyndromic genetic hearing loss

Included ClinVar conditions (246):
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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_025257.3(SLC44A4):c.976A>G (p.Met326Val) rs644827 0.59842
NM_025257.3(SLC44A4):c.937+44C>T rs493515 0.59832
NM_025257.3(SLC44A4):c.938-11G>A rs644774 0.59820
NM_025257.3(SLC44A4):c.1130+45G>T rs660550 0.59818
NM_025257.3(SLC44A4):c.559G>A (p.Val187Ile) rs2242665 0.59805
NM_025257.3(SLC44A4):c.537G>A (p.Gly179=) rs2242664 0.59794
NM_025257.3(SLC44A4):c.997C>T (p.Arg333Trp) rs751632783 0.00001
NM_025257.3(SLC44A4):c.466A>G (p.Met156Val) rs1135402753
NM_025257.3(SLC44A4):c.813C>T (p.Tyr271=) rs494620

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