ClinVar Miner

List of variants in gene COL4A2 reported as uncertain significance for COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 59
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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.*366A>T
NM_001846.4(COL4A2):c.*390G>A
NM_001846.4(COL4A2):c.*450G>T rs541941155
NM_001846.4(COL4A2):c.*493C>G rs770230018
NM_001846.4(COL4A2):c.*563A>G rs886049983
NM_001846.4(COL4A2):c.*796T>C
NM_001846.4(COL4A2):c.*830T>C rs886049984
NM_001846.4(COL4A2):c.-117C>T
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.1078+12A>G
NM_001846.4(COL4A2):c.1108G>C (p.Ala370Pro)
NM_001846.4(COL4A2):c.1113A>G (p.Gln371=)
NM_001846.4(COL4A2):c.1340-1G>C rs1566544453
NM_001846.4(COL4A2):c.1451G>C (p.Arg484Thr) rs886049972
NM_001846.4(COL4A2):c.1597-1G>A rs745376502
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.1868T>A (p.Leu623Gln) rs886049975
NM_001846.4(COL4A2):c.2025G>A (p.Glu675=)
NM_001846.4(COL4A2):c.2187G>T (p.Gly729=)
NM_001846.4(COL4A2):c.2200C>T (p.Pro734Ser)
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.2502G>A (p.Leu834=)
NM_001846.4(COL4A2):c.2758+8T>C
NM_001846.4(COL4A2):c.305A>G (p.Lys102Arg)
NM_001846.4(COL4A2):c.313G>A (p.Val105Met) rs772439696
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.3286A>G (p.Thr1096Ala) rs886049978
NM_001846.4(COL4A2):c.3332C>T (p.Thr1111Ile) rs886049979
NM_001846.4(COL4A2):c.3455-14G>A rs369510198
NM_001846.4(COL4A2):c.3502C>T (p.Arg1168Trp)
NM_001846.4(COL4A2):c.361-5C>T rs886049968
NM_001846.4(COL4A2):c.3915T>C (p.Ala1305=) rs886049980
NM_001846.4(COL4A2):c.4084G>A (p.Gly1362Arg)
NM_001846.4(COL4A2):c.4403-10C>T
NM_001846.4(COL4A2):c.4452C>T (p.Arg1484=)
NM_001846.4(COL4A2):c.450C>T (p.Pro150=)
NM_001846.4(COL4A2):c.4561G>A (p.Glu1521Lys) rs182278784
NM_001846.4(COL4A2):c.4850G>A (p.Arg1617Gln) rs748967769
NM_001846.4(COL4A2):c.4881+11T>C
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)
NM_001846.4(COL4A2):c.827G>A (p.Gly276Asp)
NM_001846.4(COL4A2):c.862-5C>T rs555514799
NM_001846.4(COL4A2):c.992A>G (p.Asp331Gly) rs886049971

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