List of variants reported as pathogenic for Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis

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Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)	rs137854550	0.00002
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter)	rs778405030	0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)	rs137854557	0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)	rs137854556	0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)	rs797045139	0.00001
NM_001042492.3(NF1):c.1020dup (p.Val341fs)	rs1555610905
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)	rs764079291
NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter)	rs1567847905
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)	rs886041347
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)	rs199474747
NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu)	rs199474748
NM_001042492.3(NF1):c.2851-6_2851-3del	rs1597716256
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)	rs267606606
NM_001042492.3(NF1):c.2991-1G>C	rs1060500273
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)	rs1187097568
NM_001042492.3(NF1):c.3628G>T (p.Glu1210Ter)	rs2151435633
NM_001042492.3(NF1):c.3870+1G>T	rs1131691075
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter)	rs137854560
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter)	rs1131691072
NM_001042492.3(NF1):c.4543C>T (p.Gln1515Ter)	rs1567862991
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer)	rs1597829906
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu)	rs1131691103
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)	rs771529172
NM_001042492.3(NF1):c.55G>T (p.Glu19Ter)	rs786203307
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)	rs786202112
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter)	rs786203896
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)	rs137854552
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter)	rs876660696
NM_001042492.3(NF1):c.6006+1G>A	rs1555534433
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)	rs772295894
NM_001042492.3(NF1):c.6897del (p.Lys2300fs)
NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter)	rs1131691073
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.910C>T (p.Arg304Ter)	rs786203950

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