ClinVar Miner

List of variants in gene LOC111811965, NF1 studied for abdominal and pelvic region disorder

Included ClinVar conditions (891):
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Gene type:
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Total variants: 34
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HGVS dbSNP
NC_000017.11:g.(?_31094927)_(31095369_?)del
NC_000017.11:g.(?_31095300)_(31095379_?)del
NC_000017.11:g.(?_31095300)_(31095379_?)dup
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.-237dupC rs886052788
NM_000267.3(NF1):c.-242dupC rs886052787
NM_000267.3(NF1):c.-248_-247dupCC rs886052786
NM_000267.3(NF1):c.-249_-247dupCCC rs886052786
NM_000267.3(NF1):c.-322G>A rs886052785
NM_000267.3(NF1):c.-383_60+?dup443
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)
NM_000267.3(NF1):c.17C>T (p.Pro6Leu) rs864622210
NM_000267.3(NF1):c.1A>G (p.Met1Val) rs1060500252
NM_000267.3(NF1):c.26G>A (p.Trp9Ter)
NM_000267.3(NF1):c.2T>A (p.Met1Lys) rs886041346
NM_000267.3(NF1):c.36C>A (p.Ala12=) rs786203866
NM_000267.3(NF1):c.37G>A (p.Val13Met) rs1060500261
NM_000267.3(NF1):c.46C>T (p.Arg16Cys) rs1057520334
NM_000267.3(NF1):c.48C>T (p.Arg16=) rs1315327163
NM_000267.3(NF1):c.4_5delGCinsTT (p.Ala2Phe) rs1555594471
NM_000267.3(NF1):c.55G>A (p.Glu19Lys)
NM_001042492.2(NF1):c.-22G>C rs556823296
NM_001042492.2(NF1):c.15delG (p.Arg5Serfs) rs1057516197
NM_001042492.2(NF1):c.36C>T (p.Ala12=) rs786203866
NM_001042492.2(NF1):c.55G>T (p.Glu19Ter) rs786203307
NM_001042492.2(NF1):c.6C>T (p.Ala2=) rs876660128

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