ClinVar Miner

List of variants studied for autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome by OMIM

Included ClinVar conditions (5):

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Schizencephaly; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001845.6(COL4A1):c.1492G>C (p.Gly498Arg)	rs267606744
NM_001845.6(COL4A1):c.1493G>T (p.Gly498Val)	rs113994104
NM_001845.6(COL4A1):c.1528G>A (p.Gly510Arg)	rs267606743
NM_001845.6(COL4A1):c.1555G>A (p.Gly519Arg)	rs113994105
NM_001845.6(COL4A1):c.1573_1574delinsTT (p.Gly525Leu)	rs281865426
NM_001845.6(COL4A1):c.1583G>A (p.Gly528Glu)	rs113994106

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