ClinVar Miner

List of variants in gene combination COL4A1, LOC126861856 reported as likely benign for 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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001845.6(COL4A1):c.1381+8A>G	rs1054421900	0.00002
NM_001845.6(COL4A1):c.1286-18_1286-17del	rs769629668

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