ClinVar Miner

List of variants in gene NF1 reported as likely pathogenic for atypical coarctation of aorta

Included ClinVar conditions (1):
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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1166A>G (p.His389Arg) rs149739570 0.00005
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

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