ClinVar Miner

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

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.17C>G (p.Pro6Arg) rs864622210 0.00001
NM_001042492.3(NF1):c.37G>A (p.Val13Met) rs1060500261 0.00001
NM_001042492.3(NF1):c.-2A>G rs876659342
NM_001042492.3(NF1):c.-4G>A
NM_001042492.3(NF1):c.13A>G (p.Arg5Gly) rs1598173775
NM_001042492.3(NF1):c.13A>T (p.Arg5Trp) rs1598173775
NM_001042492.3(NF1):c.17C>A (p.Pro6Gln)
NM_001042492.3(NF1):c.17C>T (p.Pro6Leu) rs864622210
NM_001042492.3(NF1):c.35C>T (p.Ala12Val) rs1911554964
NM_001042492.3(NF1):c.37G>T (p.Val13Leu) rs1060500261
NM_001042492.3(NF1):c.38T>C (p.Val13Ala) rs1911556061
NM_001042492.3(NF1):c.40G>T (p.Val14Phe) rs2143145306
NM_001042492.3(NF1):c.44G>A (p.Ser15Asn) rs1598173852
NM_001042492.3(NF1):c.46C>T (p.Arg16Cys) rs1057520334
NM_001042492.3(NF1):c.47G>C (p.Arg16Pro) rs1555594493
NM_001042492.3(NF1):c.4G>T (p.Ala2Ser) rs2143144232
NM_001042492.3(NF1):c.4_5delinsTT (p.Ala2Phe) rs1555594471
NM_001042492.3(NF1):c.50T>C (p.Phe17Ser) rs1911557433
NM_001042492.3(NF1):c.53A>G (p.Asp18Gly)
NM_001042492.3(NF1):c.55G>A (p.Glu19Lys) rs786203307
NM_001042492.3(NF1):c.58C>G (p.Gln20Glu) rs1567786905
NM_001042492.3(NF1):c.59A>G (p.Gln20Arg) rs1598173901
NM_001042492.3(NF1):c.60+4A>G rs1911560774
NM_001042492.3(NF1):c.60G>A (p.Gln20=)
NM_001042492.3(NF1):c.7G>A (p.Ala3Thr) rs1598173770
NM_001042492.3(NF1):c.8C>A (p.Ala3Glu)
NM_001042492.3(NF1):c.8C>T (p.Ala3Val) rs1911550821

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