ClinVar Miner

List of variants in gene LOXHD1 reported as likely pathogenic for Rare genetic deafness

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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157 0.00003
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384474.1(LOXHD1):c.2244+2T>G rs1555681351
NM_001384474.1(LOXHD1):c.4045G>T (p.Glu1349Ter) rs2144321916

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