ClinVar Miner

List of variants in gene NF1 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 10
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HGVS dbSNP
NM_000267.3(NF1):c.1527+5G>T rs1060500352
NM_000267.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_000267.3(NF1):c.2389del (p.Ala797fs) rs1555614016
NM_000267.3(NF1):c.2978T>G (p.Leu993Ter) rs1555614460
NM_000267.3(NF1):c.4342A>T (p.Lys1448Ter) rs1567862353
NM_000267.3(NF1):c.4343_4355del (p.Lys1448fs) rs1567862349
NM_000267.3(NF1):c.4728dup (p.Thr1577fs) rs1253123816
NM_000267.3(NF1):c.5251G>C (p.Val1751Leu) rs1567612377
NM_000267.3(NF1):c.7935C>T (p.Asn2645=) rs747307832
NM_000267.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363

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