ClinVar Miner

List of variants reported as uncertain significance for cerebral arterial disease by UMR-S1161, Institut national de la santé et de la recherche médicale

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001256071.3(RNF213):c.13195G>A (p.Ala4399Thr) rs148731719 0.00799
NM_001256071.3(RNF213):c.5114C>A (p.Thr1705Lys) rs147868237 0.00389
NM_001256071.3(RNF213):c.3404C>T (p.Ala1135Val) rs201493500 0.00317
NM_001256071.3(RNF213):c.352T>C (p.Cys118Arg) rs201620985 0.00187
NM_001256071.3(RNF213):c.5530G>A (p.Ala1844Thr) rs545060242 0.00160
NM_001256071.3(RNF213):c.5162C>T (p.Pro1721Leu) rs189765261 0.00109
NM_001256071.3(RNF213):c.397C>A (p.Leu133Met) rs149177904 0.00099
NM_001256071.3(RNF213):c.626T>A (p.Ile209Asn) rs144769597 0.00099
NM_001256071.3(RNF213):c.12055C>T (p.Arg4019Cys) rs139265462 0.00061
NM_001256071.3(RNF213):c.13918G>A (p.Gly4640Ser) rs138223459 0.00004
NM_001256071.3(RNF213):c.11537G>A (p.Arg3846His) rs1321156693 0.00002
NM_001256071.3(RNF213):c.12124G>A (p.Glu4042Lys) rs1241745586 0.00002
NM_001256071.3(RNF213):c.12098C>T (p.Pro4033Leu) rs778482758 0.00001
NM_001256071.3(RNF213):c.11779G>A (p.Ala3927Thr) rs777402744
NM_001256071.3(RNF213):c.11797G>A (p.Val3933Met) rs1181813391
NM_001256071.3(RNF213):c.1184C>T (p.Pro395Leu) rs1555645286
NM_001256071.3(RNF213):c.12094T>C (p.Cys4032Arg) rs1555675572
NM_001256071.3(RNF213):c.12152A>C (p.His4051Pro) rs1555675612
NM_001256071.3(RNF213):c.12185G>A (p.Arg4062Gln) rs1555676035
NM_001256071.3(RNF213):c.12365A>T (p.Asp4122Val) rs1555676146
NM_001256071.3(RNF213):c.13822C>T (p.Pro4608Ser) rs1356925198

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