ClinVar Miner

List of variants studied for cerebral arterial disease by Department of Internal Medicine, University of Texas Health Science Center at Houston

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001256071.3(RNF213):c.12055C>T (p.Arg4019Cys) rs139265462 0.00061
NM_001256071.3(RNF213):c.15487G>A (p.Val5163Ile) rs201733659 0.00018
NM_001256071.3(RNF213):c.14195A>C (p.Lys4732Thr) rs148776624 0.00016
NM_001256071.3(RNF213):c.11765G>A (p.Arg3922Gln) rs766292366 0.00004
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00004
NM_001256071.3(RNF213):c.12711C>G (p.Asp4237Glu) rs773785078 0.00002
NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn) rs397514563 0.00001
NM_001256071.3(RNF213):c.12226A>G (p.Ile4076Val) rs746280089 0.00001
NM_001256071.3(RNF213):c.11990G>A (p.Cys3997Tyr) rs797045189
NM_001256071.3(RNF213):c.12343_12345del (p.Lys4115del) rs797045187
NM_001256071.3(RNF213):c.14850_14851insGGCAAACAGAGCGTGCAGCAG (p.Glu4950_Phe4951insGlyLysGlnSerValGlnGln) rs797045188
NM_001256071.3(RNF213):c.1587_1589del (p.Ala531del) rs797045186

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