List of variants in gene NF1 reported as pathogenic by Genetics and Molecular Pathology, SA Pathology

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.1845G>A (p.Lys615=)	rs1131691080
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)	rs199474738
NM_001042492.3(NF1):c.2326-3T>G	rs876658946
NM_001042492.3(NF1):c.3113+1G>T	rs267606599
NM_001042492.3(NF1):c.3144G>A (p.Trp1048Ter)	rs1555614635
NM_001042492.3(NF1):c.3496+2T>C	rs766143785
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro)	rs199474733
NM_001042492.3(NF1):c.6564dup (p.Pro2189fs)	rs2151556401
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)	rs772295894
NM_001042492.3(NF1):c.997dup (p.Tyr333fs)	rs1567835183

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