List of variants in gene GJB3 reported by OMIM

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr)	rs117385606	0.00039
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys)	rs74315318	0.00019
NM_024009.3(GJB3):c.538C>T (p.Arg180Ter)	rs74315319	0.00003
NM_024009.3(GJB3):c.101T>C (p.Leu34Pro)	rs28937583
NM_024009.3(GJB3):c.125G>C (p.Arg42Pro)	rs74315321
NM_024009.3(GJB3):c.196_198del (p.Asp66del)	rs786200895
NM_024009.3(GJB3):c.256T>A (p.Cys86Ser)	rs74315317
NM_024009.3(GJB3):c.34G>C (p.Gly12Arg)	rs74315315
NM_024009.3(GJB3):c.35G>A (p.Gly12Asp)	rs74315316
NM_024009.3(GJB3):c.421A>G (p.Ile141Val)	rs74315320
NM_024009.3(GJB3):c.421_423del (p.Ile141del)	rs770247378
NM_024009.3(GJB3):c.497A>G (p.Asn166Ser)	rs121908851

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