ClinVar Miner

List of variants reported as pathogenic for Cerebral arteriovenous malformation

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_001114753.3(ENG):c.920dup (p.Asn307fs) rs1554810174
NM_001243133.2(NLRP3):c.29G>T (p.Arg10Met) rs2103083622
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1906C>T (p.Gln636Ter) rs1585998247
NM_004985.5(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_006513.4(SARS1):c.971T>C (p.Ile324Thr) rs1553178399
NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser) rs1555196298
NM_031220.4(PITPNM3):c.274C>T (p.Arg92Ter) rs1555556099

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