ClinVar Miner

List of variants studied for cerebral arterial disease by University of Washington Center for Mendelian Genomics, University of Washington

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter) rs373182378 0.00001
NM_001130682.3(GUCY1A1):c.1550G>A (p.Cys517Tyr) rs751701114
NM_001130682.3(GUCY1A1):c.334_335del (p.Glu112fs) rs781020381
NM_001256071.3(RNF213):c.11986_11989delinsGGGTTAG (p.Pro3996_Cys3997delinsGlyLeuGly) rs2144460572
NM_001256071.3(RNF213):c.12341C>G (p.Thr4114Arg) rs2079442813

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