List of variants in gene ILDR1 reported as likely pathogenic for Autosomal recessive nonsyndromic hearing loss 42

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter)	rs142746163	0.00019
NM_001199799.2(ILDR1):c.206C>A (p.Pro69His)
NM_001199799.2(ILDR1):c.353_357dup (p.Arg120fs)
NM_001199799.2(ILDR1):c.745del (p.Ser249fs)	rs571007078
NM_001199799.2(ILDR1):c.98_99insAA (p.Tyr34fs)

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