List of variants in gene NF1 reported as pathogenic for Inborn genetic diseases

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.1722C>G (p.Ser574Arg)	rs2144015494
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)	rs199474760
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)	rs786202782
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter)	rs137854562
NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs)	rs1064794276
NM_001042492.3(NF1):c.3814C>T (p.Gln1272Ter)	rs2067188361
NM_001042492.3(NF1):c.4729C>T (p.Gln1577Ter)	rs797044942
NM_001042492.3(NF1):c.499_502del (p.Cys167fs)	rs786201874
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)	rs786202112
NM_001042492.3(NF1):c.5619dup (p.Tyr1874fs)	rs1555533842
NM_001042492.3(NF1):c.5835T>A (p.Cys1945Ter)	rs1555534380
NM_001042492.3(NF1):c.6915_6916dup (p.Asn2306fs)	rs1555535052

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