ClinVar Miner

List of variants in gene ADCY1 studied for autosomal recessive nonsyndromic hearing loss 44

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_021116.4(ADCY1):c.2718+58G>A rs2461114 0.97889
NM_021116.4(ADCY1):c.1149-29T>C rs2471231 0.83461
NM_021116.4(ADCY1):c.1149-31C>G rs2461131 0.70197
NM_021116.4(ADCY1):c.3090G>A (p.Arg1030=) rs2293106 0.20517
NM_021116.4(ADCY1):c.2161A>G (p.Thr721Ala) rs74535389 0.00045
NM_021116.4(ADCY1):c.1789C>T (p.Arg597Trp) rs142005939
NM_021116.4(ADCY1):c.2571+37T>G rs2247685
NM_021116.4(ADCY1):c.3112C>T (p.Arg1038Ter) rs587777497

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