List of variants in gene NF1 reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 22

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)	rs760703505	0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)	rs797045139	0.00001
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)	rs764079291
NM_001042492.3(NF1):c.154dup (p.Ser52fs)
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg)	rs1131691095
NM_001042492.3(NF1):c.2511G>A (p.Trp837Ter)	rs1555614211
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)	rs199474747
NM_001042492.3(NF1):c.2665dup (p.Thr889fs)	rs886041348
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)	rs267606606
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)	rs199474742
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)	rs199474742
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)	rs376576925
NM_001042492.3(NF1):c.4783C>T (p.Gln1595Ter)	rs1597753263
NM_001042492.3(NF1):c.6643-2A>G	rs1597844547
NM_001042492.3(NF1):c.6704+1G>A	rs1060500376
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)	rs772295894
NM_001042492.3(NF1):c.7359C>A (p.Cys2453Ter)	rs1555536126
NM_001042492.3(NF1):c.7409del (p.Asn2470fs)
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)	rs866445127
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)	rs786201367
NM_001042492.3(NF1):c.8059_8060del (p.Ser2687fs)	rs1060500387
NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer)	rs1555610893

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