ClinVar Miner

List of variants in gene NF1 reported as not provided by ITMI

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Gene type:
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Total variants: 16
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HGVS dbSNP
NM_000267.3(NF1):c.1549G>A (p.Glu517Lys) rs587778548
NM_000267.3(NF1):c.1955G>A (p.Arg652His) rs587778549
NM_000267.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_000267.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753
NM_000267.3(NF1):c.3415G>A (p.Ala1139Thr) rs587778551
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.7468G>C (p.Val2490Leu) rs2230850
NM_000267.3(NF1):c.7774C>G (p.Pro2592Ala) rs138839077
NM_001042492.2(NF1):c.1894T>A (p.Cys632Ser) rs370789267
NM_001042492.2(NF1):c.1933A>G (p.Met645Val) rs146051850
NM_001042492.2(NF1):c.2572T>C (p.Ser858Pro) rs587778550
NM_001042492.2(NF1):c.456A>G (p.Ala152=) rs377481833
NM_001042492.2(NF1):c.584A>G (p.Lys195Arg) rs587778552
NM_001042492.2(NF1):c.6172A>G (p.Ile2058Val) rs201712827
NM_001042492.2(NF1):c.8515G>A (p.Val2839Met) rs368149035

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