ClinVar Miner

List of variants reported as pathogenic for autosomal dominant nonsyndromic hearing loss 2A by Laboratory of Molecular Genetics, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine

Included ClinVar conditions (1):
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro) rs1271250198
NM_004700.4(KCNQ4):c.261_269del (p.Tyr88_Val90del) rs1557977732
NM_004700.4(KCNQ4):c.796G>T (p.Asp266Tyr) rs1558014576

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