List of variants in gene LOXHD1 reported as pathogenic for auditory system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)	rs201587138	0.00069
NM_001384474.1(LOXHD1):c.3061+1G>A	rs537227442	0.00006
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu)	rs763915229	0.00006
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter)	rs188119157	0.00003
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter)	rs886044666	0.00003
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs)	rs775267638	0.00003
NM_001384474.1(LOXHD1):c.4212+1G>A	rs889110926	0.00002
NM_001384474.1(LOXHD1):c.757C>T (p.Gln253Ter)	rs909435840	0.00002
NM_001384474.1(LOXHD1):c.2008C>T (p.Arg670Ter)	rs121918370	0.00001
NM_001384474.1(LOXHD1):c.3061C>T (p.Arg1021Ter)	rs963520367	0.00001
NM_001384474.1(LOXHD1):c.3169C>T (p.Arg1057Ter)	rs727505104	0.00001
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter)	rs961865375	0.00001
NM_001384474.1(LOXHD1):c.1228C>T (p.Gln410Ter)	rs777587826
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs)	rs1555683951
NM_001384474.1(LOXHD1):c.2863G>T (p.Glu955Ter)	rs548893604
NM_001384474.1(LOXHD1):c.3351-1G>A	rs868646051
NM_001384474.1(LOXHD1):c.3619G>T (p.Gly1207Ter)
NM_001384474.1(LOXHD1):c.3924C>A (p.Tyr1308Ter)	rs184966970
NM_001384474.1(LOXHD1):c.4099G>T (p.Glu1367Ter)	rs373937326
NM_001384474.1(LOXHD1):c.4247G>A (p.Trp1416Ter)	rs2036157162
NM_001384474.1(LOXHD1):c.4477G>T (p.Glu1493Ter)	rs1166673793
NM_001384474.1(LOXHD1):c.46del (p.Leu16fs)	rs1599083635
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter)	rs75949023
NM_001384474.1(LOXHD1):c.4843G>A (p.Gly1615Arg)	rs768835732
NM_001384474.1(LOXHD1):c.6074del (p.Gly2025fs)	rs1442485603
NM_001384474.1(LOXHD1):c.6080dup (p.Gly2028fs)	rs878853231
NM_001384474.1(LOXHD1):c.6541del (p.Ala2181fs)	rs2143422217
NM_001384474.1(LOXHD1):c.894T>G (p.Tyr298Ter)	rs886043441
NM_144612.6(LOXHD1):c.[4480C>T];[4714C>T]

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