ClinVar Miner

List of variants studied for Porencephaly 2 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 187
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HGVS dbSNP gnomAD frequency
NM_001846.4(COL4A2):c.297G>A (p.Thr99=) rs4238272 0.93420
NM_001846.4(COL4A2):c.*417C>G rs10509 0.87295
NM_001846.4(COL4A2):c.4515A>G (p.Pro1505=) rs445348 0.83868
NM_001846.4(COL4A2):c.-277A>C rs7989823 0.63352
NM_001846.4(COL4A2):c.1777-7C>T rs3803236 0.58770
NM_001846.4(COL4A2):c.1550G>A (p.Arg517Lys) rs7990383 0.58581
NM_001846.4(COL4A2):c.1488G>A (p.Pro496=) rs7990214 0.57170
NM_001846.4(COL4A2):c.*76T>C rs422733 0.54785
NM_001846.4(COL4A2):c.-215C>T rs7990017 0.48885
NM_001846.4(COL4A2):c.1008C>T (p.Pro336=) rs4103 0.48817
NM_001846.4(COL4A2):c.*663T>C rs7711 0.44193
NM_001846.4(COL4A2):c.*727G>C rs15457 0.43750
NM_001846.4(COL4A2):c.*541C>T rs1049906 0.42528
NM_001846.4(COL4A2):c.*557A>G rs1049931 0.40859
NM_001846.4(COL4A2):c.*650T>C rs1049977 0.40601
NM_001846.4(COL4A2):c.2587+8C>T rs2281974 0.38939
NM_001846.4(COL4A2):c.-203T>C rs7991332 0.31576
NM_001846.4(COL4A2):c.1179C>T (p.Ile393=) rs74941798 0.30406
NM_001846.4(COL4A2):c.-232C>G rs7990009 0.30049
NM_001846.4(COL4A2):c.1095G>A (p.Pro365=) rs76425569 0.28294
NM_001846.4(COL4A2):c.2588-11C>T rs9521803 0.25564
NM_001846.4(COL4A2):c.2152C>T (p.Pro718Ser) rs9583500 0.23344
NM_001846.4(COL4A2):c.4089G>A (p.Ala1363=) rs4773199 0.23132
NM_001846.4(COL4A2):c.2759-5T>C rs3803228 0.18700
NM_001846.4(COL4A2):c.-133A>G rs35466678 0.15263
NM_001846.4(COL4A2):c.2903-12A>G rs2296853 0.13866
NM_001846.4(COL4A2):c.2048G>C (p.Gly683Ala) rs3803230 0.10188
NM_001846.4(COL4A2):c.4617G>A (p.Ala1539=) rs391859 0.09437
NM_001846.4(COL4A2):c.912+9C>T rs7983979 0.08329
NM_001846.4(COL4A2):c.3634+4C>T rs2274544 0.07052
NM_001846.4(COL4A2):c.3455-5C>G rs2296849 0.05942
NM_001846.4(COL4A2):c.549+15G>C rs74124318 0.03314
NM_001846.4(COL4A2):c.4195G>A (p.Val1399Ile) rs45520539 0.02954
NM_001846.4(COL4A2):c.594C>T (p.Pro198=) rs74124319 0.02794
NM_001846.4(COL4A2):c.315+14G>T rs78713113 0.02016
NM_001846.4(COL4A2):c.*800G>A rs73618180 0.01600
NM_001846.4(COL4A2):c.*695T>C rs11555634 0.01568
NM_001846.4(COL4A2):c.*25T>C rs113331483 0.01072
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802 0.00988
NM_001846.4(COL4A2):c.732C>T (p.Asp244=) rs144319016 0.00870
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys) rs62621875 0.00869
NM_001846.4(COL4A2):c.2102A>G (p.Lys701Arg) rs78829338 0.00822
NM_001846.4(COL4A2):c.1308C>T (p.Pro436=) rs78615289 0.00806
NM_001846.4(COL4A2):c.574G>T (p.Val192Phe) rs62621885 0.00734
NM_001846.4(COL4A2):c.888A>G (p.Gly296=) rs114482753 0.00717
NM_001846.4(COL4A2):c.3642C>T (p.Asp1214=) rs115373326 0.00459
NM_001846.4(COL4A2):c.1655C>A (p.Thr552Lys) rs112262533 0.00457
NM_001846.4(COL4A2):c.3634+13G>A rs188658233 0.00457
NM_001846.4(COL4A2):c.1979-6C>T rs190632602 0.00454
NM_001846.4(COL4A2):c.4882-15C>T rs114427900 0.00447
NM_001846.4(COL4A2):c.4882-7T>C rs116548600 0.00420
NM_001846.4(COL4A2):c.4776G>T (p.Val1592=) rs59395531 0.00387
NM_001846.4(COL4A2):c.3326G>A (p.Arg1109Gln) rs184812559 0.00356
NM_001846.4(COL4A2):c.4929G>A (p.Pro1643=) rs7320105 0.00302
NM_001846.4(COL4A2):c.3234A>C (p.Ala1078=) rs148837052 0.00273
NM_001846.4(COL4A2):c.1669+5G>C rs147210424 0.00252
NM_001846.4(COL4A2):c.3634+12C>T rs148069014 0.00210
NM_001846.4(COL4A2):c.2011G>A (p.Gly671Ser) rs143710874 0.00208
NM_001846.4(COL4A2):c.1375G>A (p.Ala459Thr) rs202017641 0.00186
NM_001846.4(COL4A2):c.576C>T (p.Val192=) rs190117538 0.00175
NM_001846.4(COL4A2):c.1948C>T (p.Pro650Ser) rs200735885 0.00161
NM_001846.4(COL4A2):c.3454+13G>A rs200830236 0.00155
NM_001846.4(COL4A2):c.3346+7A>G rs201020737 0.00153
NM_001846.4(COL4A2):c.5068G>A (p.Ala1690Thr) rs201105747 0.00151
NM_001846.4(COL4A2):c.2484T>C (p.Pro828=) rs181706751 0.00145
NM_001846.4(COL4A2):c.3920C>G (p.Pro1307Arg) rs201627758 0.00138
NM_001846.4(COL4A2):c.4578G>A (p.Ala1526=) rs186888528 0.00131
NM_001846.4(COL4A2):c.2244C>T (p.Leu748=) rs375548321 0.00125
NM_001846.4(COL4A2):c.3042A>C (p.Pro1014=) rs200384476 0.00115
NM_001846.4(COL4A2):c.*280C>G rs118089787 0.00109
NM_001846.4(COL4A2):c.4737C>T (p.Ala1579=) rs201956616 0.00102
NM_001846.4(COL4A2):c.3396C>T (p.Phe1132=) rs201762977 0.00095
NM_001846.4(COL4A2):c.-101G>A rs528084465 0.00092
NM_001846.4(COL4A2):c.2004C>T (p.Ala668=) rs148709279 0.00091
NM_001846.4(COL4A2):c.4146C>T (p.Pro1382=) rs372424 0.00080
NM_001846.4(COL4A2):c.-87G>A rs895274784 0.00072
NM_001846.4(COL4A2):c.1328C>G (p.Pro443Arg) rs192250572 0.00060
NM_001846.4(COL4A2):c.4256T>C (p.Met1419Thr) rs191708663 0.00059
NM_001846.4(COL4A2):c.3087C>T (p.Pro1029=) rs201630262 0.00044
NM_001846.4(COL4A2):c.4255A>G (p.Met1419Val) rs531809013 0.00040
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501 0.00040
NM_001846.4(COL4A2):c.4716G>A (p.Pro1572=) rs201510187 0.00032
NM_001846.4(COL4A2):c.1339+14A>G rs368543918 0.00029
NM_001846.4(COL4A2):c.2039-3C>T rs202208839 0.00029
NM_001846.4(COL4A2):c.4428G>A (p.Pro1476=) rs371857202 0.00028
NM_001846.4(COL4A2):c.5070C>T (p.Ala1690=) rs199809827 0.00025
NM_001846.4(COL4A2):c.4916C>T (p.Ser1639Leu) rs77786415 0.00024
NM_001846.4(COL4A2):c.3856C>T (p.Pro1286Ser) rs75571926 0.00023
NM_001846.4(COL4A2):c.*366A>T rs886720876 0.00018
NM_001846.4(COL4A2):c.-77G>A rs547827059 0.00018
NM_001846.4(COL4A2):c.*796T>C rs958768469 0.00017
NM_001846.4(COL4A2):c.4456G>A (p.Val1486Ile) rs201426733 0.00017
NM_001846.4(COL4A2):c.*493C>G rs770230018 0.00015
NM_001846.4(COL4A2):c.3257C>T (p.Ala1086Val) rs370679299 0.00015
NM_001846.4(COL4A2):c.4915T>C (p.Ser1639Pro) rs756772866 0.00014
NM_001846.4(COL4A2):c.3455-14G>A rs369510198 0.00013
NM_001846.4(COL4A2):c.4096G>A (p.Asp1366Asn) rs558814304 0.00013
NM_001846.4(COL4A2):c.4985G>A (p.Arg1662His) rs200192119 0.00012
NM_001846.4(COL4A2):c.684+8G>A rs200682990 0.00012
NM_001846.4(COL4A2):c.1978+10A>G rs766115921 0.00011
NM_001846.4(COL4A2):c.783C>A (p.Ile261=) rs369814411 0.00011
NM_001846.4(COL4A2):c.1596+8G>C rs147871111 0.00010
NM_001846.4(COL4A2):c.1256C>T (p.Ala419Val) rs72657933 0.00009
NM_001846.4(COL4A2):c.1790A>G (p.Lys597Arg) rs201676472 0.00009
NM_001846.4(COL4A2):c.4731C>T (p.Pro1577=) rs72659607 0.00009
NM_001846.4(COL4A2):c.4286-12G>A rs553663121 0.00008
NM_001846.4(COL4A2):c.4403-10C>T rs974483781 0.00008
NM_001846.4(COL4A2):c.-117C>T rs996191480 0.00007
NM_001846.4(COL4A2):c.-220C>T rs1285340381 0.00007
NM_001846.4(COL4A2):c.1776C>T (p.Pro592=) rs767094122 0.00007
NM_001846.4(COL4A2):c.2200C>T (p.Pro734Ser) rs761169216 0.00007
NM_001846.4(COL4A2):c.4436C>T (p.Pro1479Leu) rs377115391 0.00007
NM_001846.4(COL4A2):c.1945C>T (p.Pro649Ser) rs370641410 0.00006
NM_001846.4(COL4A2):c.4683C>T (p.Asn1561=) rs368443057 0.00006
NM_001846.4(COL4A2):c.708C>T (p.Tyr236=) rs775257372 0.00006
NM_001846.4(COL4A2):c.*254C>T rs978536033 0.00005
NM_001846.4(COL4A2):c.*371A>G rs576821082 0.00005
NM_001846.4(COL4A2):c.2025G>A (p.Glu675=) rs374972536 0.00005
NM_001846.4(COL4A2):c.395C>T (p.Pro132Leu) rs199561972 0.00005
NM_001846.4(COL4A2):c.1078+12A>G rs1473673298 0.00004
NM_001846.4(COL4A2):c.1199G>C (p.Arg400Thr) rs746145513 0.00004
NM_001846.4(COL4A2):c.1570G>A (p.Gly524Ser) rs773783775 0.00004
NM_001846.4(COL4A2):c.2553G>T (p.Gly851=) rs764978267 0.00004
NM_001846.4(COL4A2):c.3502C>T (p.Arg1168Trp) rs375813265 0.00004
NM_001846.4(COL4A2):c.4881+11T>C rs370209795 0.00004
NM_001846.4(COL4A2):c.862-5C>T rs555514799 0.00004
NM_001846.4(COL4A2):c.*563A>G rs886049983 0.00003
NM_001846.4(COL4A2):c.*769G>A rs2274543 0.00003
NM_001846.4(COL4A2):c.-241C>T rs1444820598 0.00003
NM_001846.4(COL4A2):c.1263C>T (p.Tyr421=) rs757264758 0.00003
NM_001846.4(COL4A2):c.2343C>T (p.Pro781=) rs767050469 0.00003
NM_001846.4(COL4A2):c.2444G>C (p.Gly815Ala) rs780116763 0.00003
NM_001846.4(COL4A2):c.450C>T (p.Pro150=) rs775266949 0.00003
NM_001846.4(COL4A2):c.550-13T>C rs572328853 0.00003
NM_001846.4(COL4A2):c.*390G>A rs1281110806 0.00002
NM_001846.4(COL4A2):c.1108G>C (p.Ala370Pro) rs909040713 0.00002
NM_001846.4(COL4A2):c.1113A>G (p.Gln371=) rs781075845 0.00002
NM_001846.4(COL4A2):c.1738G>A (p.Asp580Asn) rs766981913 0.00002
NM_001846.4(COL4A2):c.1914C>T (p.Ala638=) rs779939063 0.00002
NM_001846.4(COL4A2):c.2095+14G>A rs768710957 0.00002
NM_001846.4(COL4A2):c.2095+9C>T rs369918222 0.00002
NM_001846.4(COL4A2):c.257G>A (p.Arg86His) rs751272301 0.00002
NM_001846.4(COL4A2):c.2902+5G>C rs377140964 0.00002
NM_001846.4(COL4A2):c.415G>A (p.Gly139Arg) rs373792475 0.00002
NM_001846.4(COL4A2):c.1053C>T (p.Tyr351=) rs768513619 0.00001
NM_001846.4(COL4A2):c.1094C>T (p.Pro365Leu) rs746749693 0.00001
NM_001846.4(COL4A2):c.1868T>A (p.Leu623Gln) rs886049975 0.00001
NM_001846.4(COL4A2):c.2095+5T>C rs376823280 0.00001
NM_001846.4(COL4A2):c.2502G>A (p.Leu834=) rs1034589988 0.00001
NM_001846.4(COL4A2):c.3205C>T (p.Arg1069Trp) rs200165414 0.00001
NM_001846.4(COL4A2):c.3208-14A>G rs886049977 0.00001
NM_001846.4(COL4A2):c.3286A>G (p.Thr1096Ala) rs886049978 0.00001
NM_001846.4(COL4A2):c.361-11C>G rs532415822 0.00001
NM_001846.4(COL4A2):c.4123G>A (p.Asp1375Asn) rs368612819 0.00001
NM_001846.4(COL4A2):c.4167G>A (p.Gly1389=) rs776334302 0.00001
NM_001846.4(COL4A2):c.4414C>T (p.Arg1472Cys) rs779703009 0.00001
NM_001846.4(COL4A2):c.468C>T (p.Thr156=) rs765157156 0.00001
NM_001846.4(COL4A2):c.4850G>A (p.Arg1617Gln) rs748967769 0.00001
NM_001846.4(COL4A2):c.827G>A (p.Gly276Asp) rs372917662 0.00001
NM_001846.4(COL4A2):c.*22C>A rs1884109665
NM_001846.4(COL4A2):c.*242C>T rs886049982
NM_001846.4(COL4A2):c.*450G>T rs541941155
NM_001846.4(COL4A2):c.*830T>C rs886049984
NM_001846.4(COL4A2):c.-215C>A rs7990017
NM_001846.4(COL4A2):c.-277A>G rs7989823
NM_001846.4(COL4A2):c.-44-5T>C rs886049966
NM_001846.4(COL4A2):c.1208C>T (p.Pro403Leu) rs772448912
NM_001846.4(COL4A2):c.1451G>C (p.Arg484Thr) rs886049972
NM_001846.4(COL4A2):c.1706G>A (p.Gly569Glu) rs886049973
NM_001846.4(COL4A2):c.1772C>G (p.Pro591Arg) rs886049974
NM_001846.4(COL4A2):c.2187G>T (p.Gly729=) rs1319150301
NM_001846.4(COL4A2):c.2429G>A (p.Ser810Asn) rs372516991
NM_001846.4(COL4A2):c.2758+8T>C rs1882858975
NM_001846.4(COL4A2):c.305A>G (p.Lys102Arg) rs1302254625
NM_001846.4(COL4A2):c.316-5C>G rs886049967
NM_001846.4(COL4A2):c.3332C>T (p.Thr1111Ile) rs886049979
NM_001846.4(COL4A2):c.361-5C>T rs886049968
NM_001846.4(COL4A2):c.3915T>C (p.Ala1305=) rs886049980
NM_001846.4(COL4A2):c.4452C>T (p.Arg1484=) rs1883883239
NM_001846.4(COL4A2):c.4561G>A (p.Glu1521Lys) rs182278784
NM_001846.4(COL4A2):c.4882-13C>G rs375187382
NM_001846.4(COL4A2):c.4968C>T (p.Ile1656=) rs148666408
NM_001846.4(COL4A2):c.49C>T (p.Leu17=) rs200430407
NM_001846.4(COL4A2):c.5111G>T (p.Arg1704Leu) rs747313370
NM_001846.4(COL4A2):c.549+5G>A rs886049969
NM_001846.4(COL4A2):c.751A>G (p.Asn251Asp) rs1880869213
NM_001846.4(COL4A2):c.992A>G (p.Asp331Gly) rs886049971

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