ClinVar Miner

List of variants in gene COL4A2 studied for COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 193
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HGVS dbSNP
NM_001846.4(COL4A2):c.*22C>A
NM_001846.4(COL4A2):c.*242C>T rs886049982
NM_001846.4(COL4A2):c.*254C>T
NM_001846.4(COL4A2):c.*25T>C rs113331483
NM_001846.4(COL4A2):c.*280C>G rs118089787
NM_001846.4(COL4A2):c.*366A>T
NM_001846.4(COL4A2):c.*371A>G
NM_001846.4(COL4A2):c.*390G>A
NM_001846.4(COL4A2):c.*417C>G rs10509
NM_001846.4(COL4A2):c.*450G>T rs541941155
NM_001846.4(COL4A2):c.*493C>G rs770230018
NM_001846.4(COL4A2):c.*541C>T rs1049906
NM_001846.4(COL4A2):c.*557A>G rs1049931
NM_001846.4(COL4A2):c.*563A>G rs886049983
NM_001846.4(COL4A2):c.*650T>C rs1049977
NM_001846.4(COL4A2):c.*663T>C rs7711
NM_001846.4(COL4A2):c.*695T>C rs11555634
NM_001846.4(COL4A2):c.*727G>C rs15457
NM_001846.4(COL4A2):c.*769G>A rs2274543
NM_001846.4(COL4A2):c.*76T>C rs422733
NM_001846.4(COL4A2):c.*796T>C
NM_001846.4(COL4A2):c.*800G>A rs73618180
NM_001846.4(COL4A2):c.*830T>C rs886049984
NM_001846.4(COL4A2):c.-117C>T
NM_001846.4(COL4A2):c.-215C>A
NM_001846.4(COL4A2):c.-220C>T
NM_001846.4(COL4A2):c.-241C>T
NM_001846.4(COL4A2):c.-277A>G
NM_001846.4(COL4A2):c.-44-5T>C rs886049966
NM_001846.4(COL4A2):c.-77G>A
NM_001846.4(COL4A2):c.-87G>A
NM_001846.4(COL4A2):c.1008C>T (p.Pro336=) rs4103
NM_001846.4(COL4A2):c.1053C>T (p.Tyr351=)
NM_001846.4(COL4A2):c.1078+12A>G
NM_001846.4(COL4A2):c.1094C>T (p.Pro365Leu) rs746749693
NM_001846.4(COL4A2):c.1095G>A (p.Pro365=) rs76425569
NM_001846.4(COL4A2):c.1108G>C (p.Ala370Pro)
NM_001846.4(COL4A2):c.1113A>G (p.Gln371=)
NM_001846.4(COL4A2):c.1179C>T (p.Ile393=) rs74941798
NM_001846.4(COL4A2):c.1199G>C (p.Arg400Thr)
NM_001846.4(COL4A2):c.1208C>T (p.Pro403Leu) rs772448912
NM_001846.4(COL4A2):c.1256C>T (p.Ala419Val) rs72657933
NM_001846.4(COL4A2):c.1263C>T (p.Tyr421=)
NM_001846.4(COL4A2):c.1308C>T (p.Pro436=) rs78615289
NM_001846.4(COL4A2):c.1328C>G (p.Pro443Arg) rs192250572
NM_001846.4(COL4A2):c.1339+14A>G rs368543918
NM_001846.4(COL4A2):c.1340-1G>C rs1566544453
NM_001846.4(COL4A2):c.1375G>A (p.Ala459Thr) rs202017641
NM_001846.4(COL4A2):c.1451G>C (p.Arg484Thr) rs886049972
NM_001846.4(COL4A2):c.1488G>A (p.Pro496=) rs7990214
NM_001846.4(COL4A2):c.1550G>A (p.Arg517Lys) rs7990383
NM_001846.4(COL4A2):c.1570G>A (p.Gly524Ser)
NM_001846.4(COL4A2):c.1596+8G>C
NM_001846.4(COL4A2):c.1597-1G>A rs745376502
NM_001846.4(COL4A2):c.1655C>A (p.Thr552Lys) rs112262533
NM_001846.4(COL4A2):c.1669+5G>C
NM_001846.4(COL4A2):c.1706G>A (p.Gly569Glu) rs886049973
NM_001846.4(COL4A2):c.1738G>A (p.Asp580Asn) rs766981913
NM_001846.4(COL4A2):c.1772C>G (p.Pro591Arg) rs886049974
NM_001846.4(COL4A2):c.1776+1G>A rs886039602
NM_001846.4(COL4A2):c.1776C>T (p.Pro592=)
NM_001846.4(COL4A2):c.1777-7C>T rs3803236
NM_001846.4(COL4A2):c.1790A>G (p.Lys597Arg) rs201676472
NM_001846.4(COL4A2):c.1856G>A (p.Gly619Asp)
NM_001846.4(COL4A2):c.1868T>A (p.Leu623Gln) rs886049975
NM_001846.4(COL4A2):c.1914C>T (p.Ala638=)
NM_001846.4(COL4A2):c.1945C>T (p.Pro649Ser) rs370641410
NM_001846.4(COL4A2):c.1948C>T (p.Pro650Ser) rs200735885
NM_001846.4(COL4A2):c.1978+10A>G rs766115921
NM_001846.4(COL4A2):c.1979-6C>T rs190632602
NM_001846.4(COL4A2):c.2004C>T (p.Ala668=) rs148709279
NM_001846.4(COL4A2):c.2011G>A (p.Gly671Ser)
NM_001846.4(COL4A2):c.2025G>A (p.Glu675=)
NM_001846.4(COL4A2):c.2039-3C>T rs202208839
NM_001846.4(COL4A2):c.2048G>C (p.Gly683Ala) rs3803230
NM_001846.4(COL4A2):c.2095+14G>A
NM_001846.4(COL4A2):c.2095+5T>C
NM_001846.4(COL4A2):c.2095+9C>T rs369918222
NM_001846.4(COL4A2):c.2102A>G (p.Lys701Arg) rs78829338
NM_001846.4(COL4A2):c.2152C>T (p.Pro718Ser) rs9583500
NM_001846.4(COL4A2):c.2187G>T (p.Gly729=)
NM_001846.4(COL4A2):c.2200C>T (p.Pro734Ser)
NM_001846.4(COL4A2):c.2244C>T (p.Leu748=)
NM_001846.4(COL4A2):c.2343C>T (p.Pro781=)
NM_001846.4(COL4A2):c.2429G>A (p.Ser810Asn) rs372516991
NM_001846.4(COL4A2):c.2444G>C (p.Gly815Ala) rs780116763
NM_001846.4(COL4A2):c.2484T>C (p.Pro828=) rs181706751
NM_001846.4(COL4A2):c.2502G>A (p.Leu834=)
NM_001846.4(COL4A2):c.2553G>T (p.Gly851=)
NM_001846.4(COL4A2):c.257G>A (p.Arg86His)
NM_001846.4(COL4A2):c.2587+8C>T rs2281974
NM_001846.4(COL4A2):c.2588-11C>T rs9521803
NM_001846.4(COL4A2):c.2758+8T>C
NM_001846.4(COL4A2):c.2759-5T>C rs3803228
NM_001846.4(COL4A2):c.2902+1G>A
NM_001846.4(COL4A2):c.2902+5G>C
NM_001846.4(COL4A2):c.2903-12A>G rs2296853
NM_001846.4(COL4A2):c.297G>A (p.Thr99=) rs4238272
NM_001846.4(COL4A2):c.3042A>C (p.Pro1014=)
NM_001846.4(COL4A2):c.305A>G (p.Lys102Arg)
NM_001846.4(COL4A2):c.3087C>T (p.Pro1029=) rs201630262
NM_001846.4(COL4A2):c.3110G>A (p.Gly1037Glu) rs387906603
NM_001846.4(COL4A2):c.313G>A (p.Val105Met) rs772439696
NM_001846.4(COL4A2):c.315+14G>T rs78713113
NM_001846.4(COL4A2):c.316-1G>C rs1566525717
NM_001846.4(COL4A2):c.316-5C>G rs886049967
NM_001846.4(COL4A2):c.3205C>T (p.Arg1069Trp)
NM_001846.4(COL4A2):c.3208-14A>G rs886049977
NM_001846.4(COL4A2):c.3234A>C (p.Ala1078=) rs148837052
NM_001846.4(COL4A2):c.3257C>T (p.Ala1086Val) rs370679299
NM_001846.4(COL4A2):c.3286A>G (p.Thr1096Ala) rs886049978
NM_001846.4(COL4A2):c.3326G>A (p.Arg1109Gln) rs184812559
NM_001846.4(COL4A2):c.3332C>T (p.Thr1111Ile) rs886049979
NM_001846.4(COL4A2):c.3346+7A>G rs201020737
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802
NM_001846.4(COL4A2):c.3396C>T (p.Phe1132=) rs201762977
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys) rs62621875
NM_001846.4(COL4A2):c.3454+13G>A
NM_001846.4(COL4A2):c.3455-14G>A rs369510198
NM_001846.4(COL4A2):c.3455-5C>G rs2296849
NM_001846.4(COL4A2):c.3455G>A (p.Gly1152Asp) rs387906602
NM_001846.4(COL4A2):c.3502C>T (p.Arg1168Trp)
NM_001846.4(COL4A2):c.361-11C>G
NM_001846.4(COL4A2):c.361-5C>T rs886049968
NM_001846.4(COL4A2):c.3634+12C>T rs148069014
NM_001846.4(COL4A2):c.3634+13G>A rs188658233
NM_001846.4(COL4A2):c.3634+4C>T rs2274544
NM_001846.4(COL4A2):c.3642C>T (p.Asp1214=) rs115373326
NM_001846.4(COL4A2):c.3856C>T (p.Pro1286Ser) rs75571926
NM_001846.4(COL4A2):c.3915T>C (p.Ala1305=) rs886049980
NM_001846.4(COL4A2):c.3920C>G (p.Pro1307Arg) rs201627758
NM_001846.4(COL4A2):c.395C>T (p.Pro132Leu) rs199561972
NM_001846.4(COL4A2):c.4084G>A (p.Gly1362Arg)
NM_001846.4(COL4A2):c.4089G>A (p.Ala1363=) rs4773199
NM_001846.4(COL4A2):c.4096G>A (p.Asp1366Asn) rs558814304
NM_001846.4(COL4A2):c.4123G>A (p.Asp1375Asn)
NM_001846.4(COL4A2):c.4129G>A (p.Gly1377Arg)
NM_001846.4(COL4A2):c.4146C>T (p.Pro1382=) rs372424
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) rs797044947
NM_001846.4(COL4A2):c.415G>A (p.Gly139Arg) rs373792475
NM_001846.4(COL4A2):c.4167G>A (p.Gly1389=)
NM_001846.4(COL4A2):c.4195G>A (p.Val1399Ile) rs45520539
NM_001846.4(COL4A2):c.4255A>G (p.Met1419Val) rs531809013
NM_001846.4(COL4A2):c.4256T>C (p.Met1419Thr) rs191708663
NM_001846.4(COL4A2):c.4286-12G>A
NM_001846.4(COL4A2):c.4403-10C>T
NM_001846.4(COL4A2):c.4414C>T (p.Arg1472Cys)
NM_001846.4(COL4A2):c.4428G>A (p.Pro1476=) rs371857202
NM_001846.4(COL4A2):c.4436C>T (p.Pro1479Leu) rs377115391
NM_001846.4(COL4A2):c.4452C>T (p.Arg1484=)
NM_001846.4(COL4A2):c.4456G>A (p.Val1486Ile) rs201426733
NM_001846.4(COL4A2):c.450C>T (p.Pro150=)
NM_001846.4(COL4A2):c.4515A>G (p.Pro1505=) rs445348
NM_001846.4(COL4A2):c.4561G>A (p.Glu1521Lys) rs182278784
NM_001846.4(COL4A2):c.4578G>A (p.Ala1526=) rs186888528
NM_001846.4(COL4A2):c.4617G>A (p.Ala1539=) rs391859
NM_001846.4(COL4A2):c.4683C>T (p.Asn1561=) rs368443057
NM_001846.4(COL4A2):c.468C>T (p.Thr156=) rs765157156
NM_001846.4(COL4A2):c.4716G>A (p.Pro1572=)
NM_001846.4(COL4A2):c.4731C>T (p.Pro1577=) rs72659607
NM_001846.4(COL4A2):c.4737C>T (p.Ala1579=) rs201956616
NM_001846.4(COL4A2):c.4776G>T (p.Val1592=) rs59395531
NM_001846.4(COL4A2):c.4850G>A (p.Arg1617Gln) rs748967769
NM_001846.4(COL4A2):c.4881+11T>C
NM_001846.4(COL4A2):c.4882-13C>G rs375187382
NM_001846.4(COL4A2):c.4882-15C>T rs114427900
NM_001846.4(COL4A2):c.4882-7T>C rs116548600
NM_001846.4(COL4A2):c.4915T>C (p.Ser1639Pro)
NM_001846.4(COL4A2):c.4916C>T (p.Ser1639Leu) rs77786415
NM_001846.4(COL4A2):c.4929G>A (p.Pro1643=) rs7320105
NM_001846.4(COL4A2):c.4968C>T (p.Ile1656=) rs148666408
NM_001846.4(COL4A2):c.4985G>A (p.Arg1662His) rs200192119
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501
NM_001846.4(COL4A2):c.49C>T (p.Leu17=)
NM_001846.4(COL4A2):c.5068G>A (p.Ala1690Thr) rs201105747
NM_001846.4(COL4A2):c.5070C>T (p.Ala1690=) rs199809827
NM_001846.4(COL4A2):c.5111G>T (p.Arg1704Leu) rs747313370
NM_001846.4(COL4A2):c.549+15G>C rs74124318
NM_001846.4(COL4A2):c.549+5G>A rs886049969
NM_001846.4(COL4A2):c.550-13T>C rs572328853
NM_001846.4(COL4A2):c.574G>T (p.Val192Phe) rs62621885
NM_001846.4(COL4A2):c.576C>T (p.Val192=) rs190117538
NM_001846.4(COL4A2):c.594C>T (p.Pro198=) rs74124319
NM_001846.4(COL4A2):c.684+8G>A rs200682990
NM_001846.4(COL4A2):c.708C>T (p.Tyr236=)
NM_001846.4(COL4A2):c.732C>T (p.Asp244=) rs144319016
NM_001846.4(COL4A2):c.751A>G (p.Asn251Asp)
NM_001846.4(COL4A2):c.783C>A (p.Ile261=) rs369814411
NM_001846.4(COL4A2):c.827G>A (p.Gly276Asp)
NM_001846.4(COL4A2):c.862-5C>T rs555514799
NM_001846.4(COL4A2):c.888A>G (p.Gly296=) rs114482753
NM_001846.4(COL4A2):c.912+9C>T rs7983979
NM_001846.4(COL4A2):c.992A>G (p.Asp331Gly) rs886049971

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