List of variants in gene LOXHD1 studied for Nonsyndromic genetic hearing loss

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_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)	rs201587138	0.00063
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu)	rs763915229	0.00006
NM_001384474.1(LOXHD1):c.870del (p.Ala291fs)	rs1177885503	0.00004
NM_001384474.1(LOXHD1):c.2641G>A (p.Gly881Arg)	rs759837659	0.00001
NC_000018.9:g.(44098220_44102063)_(44102273_44104428)del
NM_001384474.1(LOXHD1):c.1519-2A>T	rs2511924769
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro)	rs745683775
NM_001384474.1(LOXHD1):c.2913dup (p.Glu972fs)	rs974766727
NM_001384474.1(LOXHD1):c.3148G>T (p.Glu1050Ter)	rs1555679863
NM_001384474.1(LOXHD1):c.3619G>T (p.Gly1207Ter)	rs775711191
NM_001384474.1(LOXHD1):c.4477G>T (p.Glu1493Ter)	rs1166673793
NM_001384474.1(LOXHD1):c.6182A>G (p.Lys2061Arg)

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