ClinVar Miner

List of variants reported as risk factor for hemorrhage, intracerebral, susceptibility to by OMIM

Included ClinVar conditions (5):

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; Schizencephaly; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity
Hemorrhage, intracerebral, susceptibility to
Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of genetic origin
Porencephaly 2; Hemorrhage, intracerebral, susceptibility to

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly)	rs117412802	0.01005
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys)	rs62621875	0.00869
NM_001846.4(COL4A2):c.5068G>A (p.Ala1690Thr)	rs201105747	0.00151
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu)	rs200786329	0.00003
NM_000789.3(ACE):c.2306-117_2306-116insAF118569.1:g.14094_14382
NM_001845.6(COL4A1):c.1612C>G (p.Arg538Gly)	rs397514624

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