ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001845.5(COL4A1):c.*1404T>C rs56406633 0.02412
NM_001845.6(COL4A1):c.501C>T (p.Pro167=) rs16975612 0.01708
NM_001845.6(COL4A1):c.*176A>G rs11545877 0.00235
NM_001845.6(COL4A1):c.-103G>A rs538721412 0.00227
NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=) rs115834242 0.00215
NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile) rs41275090 0.00180
NM_001845.6(COL4A1):c.1000-5T>G rs75711155 0.00155
NM_001845.6(COL4A1):c.1466-6C>T rs183563055 0.00149
NM_001845.6(COL4A1):c.651+4_651+5insCAC rs760194800 0.00087
NM_001845.6(COL4A1):c.4229T>C (p.Met1410Thr) rs200734000 0.00061
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg) rs201964644 0.00055
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) rs138269346 0.00021
NM_001845.6(COL4A1):c.4250-12C>T rs202055679 0.00020
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu) rs199557190 0.00017
NM_001845.6(COL4A1):c.*265A>G rs555157539 0.00009
NM_001845.6(COL4A1):c.2955G>C (p.Gln985His) rs145018661 0.00009
NM_001845.6(COL4A1):c.4150+3G>A rs545498227 0.00009
NM_001845.6(COL4A1):c.*766G>A rs371130027 0.00006
NM_001845.6(COL4A1):c.2103C>T (p.Asp701=) rs561116319 0.00004
NM_001845.6(COL4A1):c.*1099G>A rs193065628 0.00003
NM_001845.6(COL4A1):c.994G>C (p.Gly332Arg) rs150182714 0.00003
NM_001845.6(COL4A1):c.1673C>T (p.Ala558Val) rs200252122 0.00001
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=) rs535848796

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