ClinVar Miner

List of variants studied for cerebrovascular disorder by Baylor Genetics

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001130682.3(GUCY1A1):c.630C>T (p.Thr210=) rs138687424 0.00008
NM_001256071.3(RNF213):c.1837G>T (p.Asp613Tyr) rs1383472329 0.00001
GRCh37/hg19 Xq28(chrX:154305031-154307464)
NM_001130682.3(GUCY1A1):c.1535G>A (p.Arg512His) rs369215353
NM_001256071.3(RNF213):c.13997C>T (p.Thr4666Ile) rs2080083465
NM_001845.6(COL4A1):c.169C>T (p.Gln57Ter)
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.6(COL4A1):c.2458+1G>A rs1878012979
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) rs797045034
NM_001845.6(COL4A1):c.2788G>A (p.Gly930Ser) rs2139163058
NM_001845.6(COL4A1):c.3077G>C (p.Gly1026Ala) rs1877834496
NM_001845.6(COL4A1):c.3139G>C (p.Gly1047Arg)
NM_001845.6(COL4A1):c.3218G>A (p.Gly1073Asp) rs1877801384
NM_001845.6(COL4A1):c.3353G>A (p.Gly1118Asp) rs1566349690
NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu) rs1566349683
NM_001845.6(COL4A1):c.3555A>G (p.Lys1185=) rs1057518654
NM_001845.6(COL4A1):c.3770G>A (p.Gly1257Glu) rs1877518903
NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val) rs1343193102
NM_001845.6(COL4A1):c.460_461delinsAT (p.Gly154Met)
NM_001845.6(COL4A1):c.4887C>G (p.Tyr1629Ter) rs542803991
NM_001846.4(COL4A2):c.286C>T (p.Pro96Ser) rs1880406303
NM_001846.4(COL4A2):c.316-1G>C rs1566525717
NM_001846.4(COL4A2):c.3205del (p.Arg1069fs)
NM_001846.4(COL4A2):c.3976G>A (p.Gly1326Arg)
NM_001846.4(COL4A2):c.4264C>T (p.Gln1422Ter)
NM_001846.4(COL4A2):c.5111G>T (p.Arg1704Leu) rs747313370

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