ClinVar Miner

List of variants studied for atypical coarctation of aorta

Included ClinVar conditions (1):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1166A>G (p.His389Arg) rs149739570 0.00005
NM_000214.3(JAG1):c.1313G>A (p.Cys438Tyr) rs1600184363
NM_000214.3(JAG1):c.2092_2093insG (p.Lys698fs) rs1600181733
NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter) rs1555827789
NM_000214.3(JAG1):c.439+1G>A rs863223648
NM_001042492.3(NF1):c.1260+5G>A rs1060500253
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.4577+1G>A rs1279529138
NM_001042492.3(NF1):c.5227G>C (p.Ala1743Pro) rs878853900
NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn) rs768740459
NM_005257.6(GATA6):c.1532C>G (p.Ser511Cys) rs1598738032

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