ClinVar Miner

List of variants in gene NF1 reported by Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand

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Gene type:
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Total variants: 20
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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.1890del (p.Gly631fs) rs2508140872
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2681T>C (p.Phe894Ser) rs1282493551
NM_001042492.3(NF1):c.3113+5G>C rs1555614549
NM_001042492.3(NF1):c.3114-2A>G rs1428885377
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.4930G>A (p.Asp1644Asn) rs1131691123
NM_001042492.3(NF1):c.496_497del (p.Val166fs) rs1135402788
NM_001042492.3(NF1):c.5204_5205del (p.Glu1735fs) rs2508698163
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) rs1060500269
NM_001042492.3(NF1):c.625C>T (p.Gln209Ter) rs786203448
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541

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