ClinVar Miner

List of variants in gene combination LOC111811965, NF1 reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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NM_000267.3(NF1):c.-115T>C rs886052793
NM_000267.3(NF1):c.-148C>A rs886052792
NM_000267.3(NF1):c.-173C>G rs886052791
NM_000267.3(NF1):c.-209C>A rs886052790
NM_000267.3(NF1):c.-229C>G rs886052789
NM_000267.3(NF1):c.-237C>T rs878967255
NM_000267.3(NF1):c.-237dup rs886052788
NM_000267.3(NF1):c.-242dup rs886052787
NM_000267.3(NF1):c.-248_-247dup rs886052786
NM_000267.3(NF1):c.-249_-247dup rs886052786
NM_000267.3(NF1):c.-322G>A rs886052785
NM_000267.3(NF1):c.-73G>T rs886052795
NM_000267.3(NF1):c.-84C>T rs886052794
NM_000267.3(NF1):c.-8G>A rs864622331
NM_000267.3(NF1):c.15G>T (p.Arg5Ser) rs1567786804
NM_000267.3(NF1):c.17C>T (p.Pro6Leu) rs864622210
NM_000267.3(NF1):c.37G>A (p.Val13Met) rs1060500261
NM_000267.3(NF1):c.44G>A (p.Ser15Asn)
NM_000267.3(NF1):c.46C>T (p.Arg16Cys) rs1057520334
NM_000267.3(NF1):c.4_5delinsTT (p.Ala2Phe) rs1555594471
NM_000267.3(NF1):c.51C>G (p.Phe17Leu)
NM_000267.3(NF1):c.55G>A (p.Glu19Lys) rs786203307
NM_000267.3(NF1):c.7G>A (p.Ala3Thr)

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