List of variants in gene COL4A1 reported as benign for Porencephalic cyst

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

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001845.6(COL4A1):c.1663= (p.Pro555=)	rs536174	0.99999
NM_001845.6(COL4A1):c.3877-9C>T	rs589985	0.63996
NM_001845.6(COL4A1):c.859-10T>C	rs677877	0.57082
NM_001845.6(COL4A1):c.432T>A (p.Ala144=)	rs532625	0.42890
NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=)	rs1133219	0.35362
NM_001845.6(COL4A1):c.85-11T>C	rs41275104	0.22726
NM_001845.6(COL4A1):c.4640+7C>T	rs2275843	0.14797
NM_001845.6(COL4A1):c.*587C>A	rs13260	0.14311
NM_001845.6(COL4A1):c.234+8C>T	rs9521650	0.13807
NM_001845.6(COL4A1):c.1815T>C (p.Pro605=)	rs61749897	0.07832
NM_001845.6(COL4A1):c.958-9C>T	rs73611465	0.02279
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His)	rs3742207
NM_001845.6(COL4A1):c.468+5ATTTT[2]	rs3832900

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