ClinVar Miner

List of variants reported as benign for Porencephalic cyst by Illumina Laboratory Services, Illumina

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Total variants: 21
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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_001846.4(COL4A2):c.-277A>C rs7989823 0.63352
NM_001845.6(COL4A1):c.859-10T>C rs677877 0.57082
NM_001846.4(COL4A2):c.-215C>T rs7990017 0.48885
NM_001845.6(COL4A1):c.432T>A (p.Ala144=) rs532625 0.42890
NM_001845.6(COL4A1):c.19G>C (p.Val7Leu) rs9515185 0.36168
NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=) rs1133219 0.35362
NM_001846.4(COL4A2):c.-203T>C rs7991332 0.31576
NM_001845.6(COL4A1):c.85-11T>C rs41275104 0.22726
NM_001846.4(COL4A2):c.-133A>G rs35466678 0.15263
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.-90G>T rs113651836
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) rs3742207
NM_001845.6(COL4A1):c.468+5ATTTT[2] rs3832900
NM_001846.4(COL4A2):c.*101_*102del rs397838577
NM_001846.4(COL4A2):c.-232C>G rs7990009

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