ClinVar Miner

List of variants reported as likely benign for COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
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HGVS dbSNP
NM_001845.5(COL4A1):c.*1404T>C rs56406633
NM_001845.6(COL4A1):c.*1014C>T rs139916479
NM_001845.6(COL4A1):c.*609T>C rs189966143
NM_001845.6(COL4A1):c.*975A>C rs28362515
NM_001845.6(COL4A1):c.-103G>A rs538721412
NM_001845.6(COL4A1):c.-13C>G rs60069761
NM_001845.6(COL4A1):c.1000-13C>G rs115358624
NM_001845.6(COL4A1):c.1110C>T (p.Pro370=)
NM_001845.6(COL4A1):c.145-5T>C
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222
NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg) rs146091004
NM_001845.6(COL4A1):c.1858G>C (p.Ala620Pro) rs372803920
NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala)
NM_001845.6(COL4A1):c.2571G>A (p.Ser857=)
NM_001845.6(COL4A1):c.2869+6T>C rs557198622
NM_001845.6(COL4A1):c.2968+12A>G rs752476229
NM_001845.6(COL4A1):c.2985A>G (p.Pro995=)
NM_001845.6(COL4A1):c.3054G>A (p.Leu1018=)
NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu) rs375787099
NM_001845.6(COL4A1):c.3198+10G>A rs202002553
NM_001845.6(COL4A1):c.3288A>G (p.Pro1096=) rs2305082
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) rs138269346
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.3506-7C>G rs377592935
NM_001845.6(COL4A1):c.3743-15C>T
NM_001845.6(COL4A1):c.3877-8G>A rs370539477
NM_001845.6(COL4A1):c.393G>A (p.Glu131=) rs34458255
NM_001845.6(COL4A1):c.3949+10C>T rs188122235
NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=) rs140722653
NM_001845.6(COL4A1):c.4010C>T (p.Pro1337Leu) rs189728415
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) rs140210015
NM_001845.6(COL4A1):c.405C>T (p.Leu135=) rs138888319
NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu) rs760889798
NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp) rs199586038
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln) rs376607450
NM_001845.6(COL4A1):c.4640+8G>A rs117566874
NM_001845.6(COL4A1):c.4658C>T (p.Ala1553Val) rs201150281
NM_001845.6(COL4A1):c.4797G>A (p.Ala1599=) rs146638269
NM_001845.6(COL4A1):c.651+4_651+5insCAC rs760194800
NM_001845.6(COL4A1):c.690C>T (p.Asp230=) rs149688210
NM_001845.6(COL4A1):c.708C>G (p.Val236=) rs139523466
NM_001845.6(COL4A1):c.781-12G>A rs202198648
NM_001845.6(COL4A1):c.904-9C>T rs201481886
NM_001845.6(COL4A1):c.994G>C (p.Gly332Arg) rs150182714
NM_001846.4(COL4A2):c.-101G>A rs528084465
NM_001846.4(COL4A2):c.1053C>T (p.Tyr351=)
NM_001846.4(COL4A2):c.1208C>T (p.Pro403Leu) rs772448912
NM_001846.4(COL4A2):c.1263C>T (p.Tyr421=)
NM_001846.4(COL4A2):c.1570G>A (p.Gly524Ser)
NM_001846.4(COL4A2):c.1776C>T (p.Pro592=)
NM_001846.4(COL4A2):c.1978+10A>G rs766115921
NM_001846.4(COL4A2):c.2095+14G>A
NM_001846.4(COL4A2):c.2095+5T>C
NM_001846.4(COL4A2):c.2553G>T (p.Gly851=)
NM_001846.4(COL4A2):c.2902+5G>C
NM_001846.4(COL4A2):c.3257C>T (p.Ala1086Val) rs370679299
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys) rs62621875
NM_001846.4(COL4A2):c.415G>A (p.Gly139Arg) rs373792475
NM_001846.4(COL4A2):c.4286-12G>A
NM_001846.4(COL4A2):c.4683C>T (p.Asn1561=) rs368443057
NM_001846.4(COL4A2):c.4731C>T (p.Pro1577=) rs72659607
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.5068G>A (p.Ala1690Thr) rs201105747
NM_001846.4(COL4A2):c.783C>A (p.Ile261=) rs369814411
NM_001846.4(COL4A2):c.888A>G (p.Gly296=) rs114482753

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