List of variants in gene LOXHD1 reported as likely pathogenic for Hearing impairment

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys)	rs200242497	0.00056
NM_001384474.1(LOXHD1):c.3061+1G>A	rs537227442	0.00006
NM_001384474.1(LOXHD1):c.2314A>T (p.Ile772Phe)	rs1289895910	0.00004
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter)	rs188119157	0.00003
NM_001384474.1(LOXHD1):c.1904T>C (p.Leu635Pro)	rs1051629865
NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs)	rs776345911
NM_001384474.1(LOXHD1):c.5907T>A (p.Tyr1969Ter)	rs1598827506

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