List of variants in gene ILDR1 reported as 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: 15

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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.942C>A (p.Cys314Ter)	rs752714222	0.00006
NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter)	rs775062249	0.00001
NM_001199799.2(ILDR1):c.102_105del (p.Arg33_Tyr34insTer)
NM_001199799.2(ILDR1):c.1032del (p.Thr345fs)	rs1226171550
NM_001199799.2(ILDR1):c.1135G>T (p.Glu379Ter)	rs387907015
NM_001199799.2(ILDR1):c.1141C>T (p.Gln381Ter)
NM_001199799.2(ILDR1):c.1180del (p.Glu394fs)
NM_001199799.2(ILDR1):c.247del (p.Ser83fs)
NM_001199799.2(ILDR1):c.28del (p.Trp10fs)
NM_001199799.2(ILDR1):c.294del (p.Val99fs)	rs2071591086
NM_001199799.2(ILDR1):c.3G>A (p.Met1Ile)	rs387907016
NM_001199799.2(ILDR1):c.583C>T (p.Gln195Ter)	rs387907017
NM_001199799.2(ILDR1):c.643G>T (p.Glu215Ter)	rs1559875009
NM_001199799.2(ILDR1):c.820C>T (p.Gln274Ter)	rs2107644932

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