List of variants in gene COL4A1, LOC126861856 studied 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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001845.6(COL4A1):c.1366G>A (p.Glu456Lys)	rs570739274	0.00004
NM_001845.6(COL4A1):c.1365C>T (p.Gly455=)	rs576636085	0.00003
NM_001845.6(COL4A1):c.1381+8A>G	rs1054421900	0.00002
NM_001845.6(COL4A1):c.1286-18_1286-17del	rs769629668
NM_001845.6(COL4A1):c.1326G>T (p.Gln442His)
NM_001845.6(COL4A1):c.1328dup (p.Pro444fs)
NM_001845.6(COL4A1):c.1333C>G (p.Pro445Ala)
NM_001845.6(COL4A1):c.1333C>T (p.Pro445Ser)	rs1878826024
NM_001845.6(COL4A1):c.1373G>T (p.Gly458Val)

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