ClinVar Miner

List of variants studied for Porencephalic cyst

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Total variants: 75
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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_001845.5(COL4A1):c.*1404T>C rs56406633 0.02412
NM_001845.6(COL4A1):c.958-9C>T rs73611465 0.02279
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_001846.4(COL4A2):c.-101G>A rs528084465 0.00084
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.1588C>T (p.Pro530Ser) rs145172612 0.00031
NM_001845.6(COL4A1):c.-13C>G rs60069761 0.00026
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu) rs150129180 0.00025
NM_001845.6(COL4A1):c.3742+14G>A rs377503687 0.00025
NM_001845.6(COL4A1):c.388-11T>C rs201801894 0.00024
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) rs138269346 0.00021
NM_001846.4(COL4A2):c.5085C>T (p.Ala1695=) rs150809854 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.*477G>T rs886049955 0.00014
NM_001845.6(COL4A1):c.2968+12A>G rs752476229 0.00012
NM_001845.6(COL4A1):c.-71C>G rs867117624 0.00011
NM_001845.6(COL4A1):c.2160C>T (p.Gly720=) rs781133776 0.00011
NM_001845.6(COL4A1):c.280-12C>T rs200121908 0.00010
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.1858G>C (p.Ala620Pro) rs372803920 0.00006
NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu) rs375787099 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.*6C>G rs762512053 0.00001
NM_001845.6(COL4A1):c.-20G>T rs886049965 0.00001
NM_001845.6(COL4A1):c.1673C>T (p.Ala558Val) rs200252122 0.00001
NM_001845.6(COL4A1):c.2706G>A (p.Pro902=) rs754208625 0.00001
NM_001845.6(COL4A1):c.2732C>T (p.Pro911Leu) rs778143775 0.00001
NM_001845.6(COL4A1):c.*510A>G rs886049954
NM_001845.6(COL4A1):c.*531T>A rs886049953
NM_001845.6(COL4A1):c.*634AT[8] rs886049952
NM_001845.6(COL4A1):c.*887del rs886049951
NM_001845.6(COL4A1):c.-90G>T rs113651836
NM_001845.6(COL4A1):c.3018T>G (p.Leu1006=) rs886049959
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=) rs535848796
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) rs3742207
NM_001845.6(COL4A1):c.4021+14T>A rs755709828
NM_001845.6(COL4A1):c.468+5ATTTT[2] rs3832900
NM_001845.6(COL4A1):c.766A>G (p.Thr256Ala) rs886049962
NM_001845.6(COL4A1):c.82A>G (p.Lys28Glu) rs886049964
NM_001846.4(COL4A2):c.*101_*102del rs397838577
NM_001846.4(COL4A2):c.*413_*414del rs760146256
NM_001846.4(COL4A2):c.-232C>G rs7990009
NM_001846.4(COL4A2):c.2317C>T (p.Pro773Ser) rs886049976
NM_001846.4(COL4A2):c.4040-11_4040-8del rs756684753
NM_001846.4(COL4A2):c.907C>T (p.Leu303=) rs886049970

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