ClinVar Miner

List of variants in gene combination LOC111811965, MIR4733HG, NF1 reported as pathogenic for Hereditary cancer-predisposing syndrome; Cardiovascular phenotype

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.-2_3del (p.Met1fs)
NM_001042492.3(NF1):c.1A>G (p.Met1Val) rs1060500252
NM_001042492.3(NF1):c.1A>T (p.Met1Leu) rs1060500252
NM_001042492.3(NF1):c.28_34del (p.Val10fs)
NM_001042492.3(NF1):c.2T>A (p.Met1Lys) rs886041346
NM_001042492.3(NF1):c.2T>C (p.Met1Thr) rs886041346
NM_001042492.3(NF1):c.2T>G (p.Met1Arg) rs886041346
NM_001042492.3(NF1):c.3G>A (p.Met1Ile) rs1598173737
NM_001042492.3(NF1):c.3G>C (p.Met1Ile) rs1598173737
NM_001042492.3(NF1):c.58C>T (p.Gln20Ter) rs1567786905

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