List of variants in gene CLDN14 reported as pathogenic for nonsyndromic genetic hearing loss

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val)	rs143797113	0.00046
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg)	rs74315438	0.00004
NM_001146079.2(CLDN14):c.167G>A (p.Trp56Ter)	rs371100799	0.00003
NM_001146079.2(CLDN14):c.242G>A (p.Arg81His)	rs368027306	0.00001
NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp)	rs74315437
NM_001146079.2(CLDN14):c.291C>A (p.Cys97Ter)
NM_001146079.2(CLDN14):c.398del (p.Met133fs)	rs786200885
NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg)	rs786204841

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