ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 77 by Revvity Omics, Revvity

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00063
NM_001384474.1(LOXHD1):c.2036C>T (p.Ala679Val) rs370779024 0.00016
NM_001384474.1(LOXHD1):c.5003G>A (p.Arg1668Gln) rs572531886 0.00006
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu) rs755485250 0.00005
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs) rs775267638 0.00003
NM_001384474.1(LOXHD1):c.4212+1G>A rs889110926 0.00002
NM_001384474.1(LOXHD1):c.182C>T (p.Ala61Val) rs752392154 0.00001
NM_001384474.1(LOXHD1):c.4531-2A>G rs951333133 0.00001
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375 0.00001
NM_001384474.1(LOXHD1):c.6743C>T (p.Thr2248Ile) rs779935366 0.00001
NM_001384474.1(LOXHD1):c.1228C>T (p.Gln410Ter) rs777587826
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384474.1(LOXHD1):c.2219C>T (p.Thr740Ile) rs1465450941
NM_001384474.1(LOXHD1):c.2598+1G>A rs1555680544
NM_001384474.1(LOXHD1):c.3401_3404dup (p.Ser1136fs) rs2143824066
NM_001384474.1(LOXHD1):c.5985C>G (p.Asp1995Glu) rs559560065

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