ClinVar Miner

List of variants studied for aortic disease by Yale Center for Mendelian Genomics,Yale University

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000214.3(JAG1):c.1313G>A (p.Cys438Tyr)
NM_000214.3(JAG1):c.2092_2093insG (p.Lys698fs)
NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter)
NM_000214.3(JAG1):c.439+1G>A rs863223648
NM_000267.3(NF1):c.1166A>G (p.His389Arg) rs149739570
NM_000267.3(NF1):c.1260+5G>A
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.4514+1G>A rs1279529138
NM_000267.3(NF1):c.5164G>C (p.Ala1722Pro) rs878853900
NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn)
NM_005257.5(GATA6):c.1532C>G (p.Ser511Cys)

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