ClinVar Miner

List of variants in gene NF1 reported by Center of Genomic medicine, Geneva,University Hospital of Geneva

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Total variants: 11
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HGVS dbSNP
NM_000267.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_000267.3(NF1):c.1392+1G>C
NM_000267.3(NF1):c.1721+1G>A rs1131691096
NM_000267.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_000267.3(NF1):c.2827A>T (p.Lys943Ter) rs1567849199
NM_000267.3(NF1):c.3250C>A (p.Pro1084Thr) rs1555614848
NM_000267.3(NF1):c.4180A>C (p.Asn1394His) rs1555618518
NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter) rs137854552
NM_000267.3(NF1):c.6641+1G>T rs1060500376
NM_000267.3(NF1):c.7909C>T (p.His2637Tyr) rs1555536868
NM_000267.3(NF1):c.910C>T (p.Arg304Ter) rs786203950

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