ClinVar Miner

List of variants in gene LRTOMT, TOMT studied for obsolete rare genetic deafness

Included ClinVar conditions (7):

Congenital long QT syndrome; Jervell and Lange-Nielsen syndrome; Rare genetic deafness
Deafness-infertility syndrome; Rare genetic deafness
Nonsyndromic genetic hearing loss; Rare genetic deafness
Rare genetic deafness
Usher syndrome; Rare genetic deafness
Waardenburg syndrome; Rare genetic deafness
Wolfram syndrome 1; Rare genetic deafness

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_001145308.5(LRTOMT):c.358+4A>C	rs545947177	0.00002
NM_001145308.5(LRTOMT):c.242G>A (p.Arg81Gln)	rs137853185	0.00001

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