List of variants reported as pathogenic for Neurofibromatosis, type 1 by Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.1721+1G>A	rs1131691096	0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)	rs760703505	0.00001
NM_001042492.3(NF1):c.1133_1136del (p.Asp378fs)	rs2143879667
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter)	rs878853865
NM_001042492.3(NF1):c.1885G>C (p.Gly629Arg)	rs199474738
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)	rs199474747
NM_001042492.3(NF1):c.27G>A (p.Trp9Ter)	rs2143144971
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter)	rs137854562
NM_001042492.3(NF1):c.496_497del (p.Val166fs)	rs1135402788
NM_001042492.3(NF1):c.5204_5205del (p.Glu1735fs)
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)	rs786202112
NM_001042492.3(NF1):c.569T>G (p.Leu190Ter)	rs1555607112
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter)	rs876660696
NM_001042492.3(NF1):c.616A>T (p.Lys206Ter)
NM_001042492.3(NF1):c.625C>T (p.Gln209Ter)	rs786203448
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)	rs876658541

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