List of variants in gene NF1 reported as uncertain significance by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.2690G>A (p.Arg897Gln)	rs863224658	0.00001
NM_001042492.3(NF1):c.5351A>T (p.Tyr1784Phe)	rs1060500280	0.00001
NM_001042492.3(NF1):c.1074del (p.Phe358fs)	rs2544796715
NM_001042492.3(NF1):c.1628A>G (p.Gln543Arg)	rs2143987248
NM_001042492.3(NF1):c.1721+61_1721+63del
NM_001042492.3(NF1):c.2643_2647del (p.Met881fs)	rs2508185984
NM_001042492.3(NF1):c.2947_2948del (p.Leu983fs)	rs1597716378
NM_001042492.3(NF1):c.3496+5G>C	rs786202564
NM_001042492.3(NF1):c.4316T>C (p.Leu1439Ser)	rs1567862071
NM_001042492.3(NF1):c.4381_4382del (p.Met1461fs)	rs1135402859
NM_001042492.3(NF1):c.5157dup (p.Glu1720fs)	rs2508697639
NM_001042492.3(NF1):c.530T>C (p.Ile177Thr)	rs2143707493
NM_001042492.3(NF1):c.6777del (p.Ser2260fs)	rs2508759534
NM_001042492.3(NF1):c.695C>T (p.Thr232Ile)	rs769719064
NM_001042492.3(NF1):c.7971_7988del (p.His2658_Ser2663del)	rs2508834649
NM_001042492.3(NF1):c.987A>G (p.Lys329=)	rs2066508210

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