ClinVar Miner

List of variants reported as benign for Autosomal recessive nonsyndromic hearing loss 1A by Illumina Laboratory Services, Illumina

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.*1277T>C rs7988691 0.99748
NM_004004.6(GJB2):c.*1152G>A rs7623 0.89599
NM_004004.6(GJB2):c.*84T>C rs3751385 0.73662
NM_004004.6(GJB2):c.-22-12C>T rs9578260 0.07478
NM_004004.6(GJB2):c.*111C>T rs7329857 0.06802
NM_004004.6(GJB2):c.*104A>T rs7337074 0.06800
NM_004004.6(GJB2):c.*168A>G rs55704559 0.04011
NM_004004.6(GJB2):c.*931C>T rs5030700 0.03992
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169 0.00129
NM_004004.6(GJB2):c.*1067G>T rs9237

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