ClinVar Miner

List of variants reported as uncertain significance for cerebrovascular disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000484.3(APP):c.-199G>A rs761755102 0.00051
NM_001846.4(COL4A2):c.1412G>A (p.Arg471His) rs372173405 0.00042
NM_000484.4(APP):c.704C>T (p.Ala235Val) rs139819006 0.00006
NM_001845.6(COL4A1):c.1729G>C (p.Gly577Arg) rs752009614 0.00002
NM_001846.4(COL4A2):c.2995A>G (p.Met999Val) rs1317550156 0.00001
NM_001256071.3(RNF213):c.11659A>G (p.Lys3887Glu) rs1555673862
NM_001613.4(ACTA2):c.641T>C (p.Ile214Thr) rs1845812659
NM_001845.6(COL4A1):c.1081A>C (p.Lys361Gln) rs1879231791
NM_001845.6(COL4A1):c.1789C>T (p.Arg597Cys) rs767374916
NM_001845.6(COL4A1):c.446C>G (p.Pro149Arg) rs1879801583
NM_001846.4(COL4A2):c.1517G>A (p.Gly506Asp) rs1881894360
NM_001846.4(COL4A2):c.3397C>T (p.Pro1133Ser) rs1883277373
NM_001846.4(COL4A2):c.4969G>A (p.Glu1657Lys) rs1232600556
NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg) rs368637364

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