ClinVar Miner

List of variants reported as pathogenic for cerebral arterial disease

Included ClinVar conditions (12):
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Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00004
NM_001130682.3(GUCY1A1):c.1045C>T (p.Arg349Ter) rs587777321 0.00001
NM_001130682.3(GUCY1A1):c.1086+1G>T rs587777320 0.00001
NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter) rs373182378 0.00001
NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn) rs397514563 0.00001
NM_001256071.3(RNF213):c.12391C>T (p.Arg4131Cys) rs556513891 0.00001
NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys) rs121434528 0.00001
GRCh37/hg19 Xq28(chrX:154305031-154307464)
NM_001130682.3(GUCY1A1):c.1086+1G>A rs587777320
NM_001130682.3(GUCY1A1):c.1170del (p.Glu391fs) rs587777322
NM_001130682.3(GUCY1A1):c.1422del (p.Lys475fs)
NM_001130682.3(GUCY1A1):c.1550G>A (p.Cys517Tyr) rs751701114
NM_001130682.3(GUCY1A1):c.1954G>T (p.Gly652Ter) rs1368733883
NM_001130682.3(GUCY1A1):c.334_335del (p.Glu112fs) rs781020381
NM_001256071.3(RNF213):c.12353C>T (p.Ser4118Phe) rs2079443410
NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn) rs768740459
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) rs112602953
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) rs387906592
NM_001613.4(ACTA2):c.773G>A (p.Arg258His) rs121434527
NM_018043.7(ANO1):c.1972A>G (p.Met658Val)
NM_018043.7(ANO1):c.2219C>T (p.Thr740Ile)
NM_018043.7(ANO1):c.508G>A (p.Glu170Lys)
NM_018676.4(THSD1):c.1348C>T (p.Arg450Ter) rs1594095223

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