List of variants reported as pathogenic for Autosomal dominant keratitis-ichthyosis-hearing loss syndrome

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00944
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)	rs72561723	0.00003
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)	rs28931594
NM_004004.6(GJB2):c.148G>T (p.Asp50Tyr)	rs28931594
NM_004004.6(GJB2):c.263C>T (p.Ala88Val)	rs1555341945
NM_004004.6(GJB2):c.34G>C (p.Gly12Arg)	rs104894408
NM_004004.6(GJB2):c.50C>T (p.Ser17Phe)	rs28929485

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