List of variants in gene combination LOC111811965, MIR4733HG, NF1 reported as likely pathogenic for neurocristopathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.-272G>A	rs1911510393
NM_001042492.3(NF1):c.15del (p.Arg5fs)	rs1057516197
NM_001042492.3(NF1):c.1A>C (p.Met1Leu)	rs1060500252
NM_001042492.3(NF1):c.2T>A (p.Met1Lys)	rs886041346
NM_001042492.3(NF1):c.3G>T (p.Met1Ile)
NM_001042492.3(NF1):c.50T>C (p.Phe17Ser)	rs1911557433
NM_001042492.3(NF1):c.58C>T (p.Gln20Ter)	rs1567786905
NM_001042492.3(NF1):c.59_60+4del	rs2143145870
NM_001042492.3(NF1):c.60+1G>C	rs1555594500
NM_001042492.3(NF1):c.60+2del	rs1131691101
NM_001042492.3(NF1):c.60G>C (p.Gln20His)	rs1911559787

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