List of variants in gene GJB2 studied for Autosomal dominant keratitis-ichthyosis-hearing loss syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00966
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)	rs34988750	0.00107
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)	rs72561723	0.00001
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.244A>G (p.Ile82Val)	rs1566528711
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
NM_004004.6(GJB2):c.524C>G (p.Pro175Arg)	rs2137307322

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