List of variants reported as pathogenic for Neurofibromatosis-Noonan syndrome by 3billion

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)	rs797045139	0.00001
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)	rs1555610903
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)	rs764079291
NM_001042492.3(NF1):c.2850+1G>A	rs1131691122
NM_001042492.3(NF1):c.6819+1G>T	rs1555534964
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs)	rs1555535032
NM_001042492.3(NF1):c.889-1del	rs2544793215

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