ClinVar Miner

List of variants in gene NF1 reported as pathogenic by 3billion

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Gene type:
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Total variants: 64
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HGVS dbSNP gnomAD frequency
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.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
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.1019_1020del (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.1062+1G>A rs1597681200
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.1261-1G>C rs2066618707
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_001042492.3(NF1):c.1641+1G>C rs1555612866
NM_001042492.3(NF1):c.1738del (p.Tyr580fs) rs786204255
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.2246C>G (p.Ser749Ter) rs778344080
NM_001042492.3(NF1):c.2248del (p.Thr750fs) rs2151426166
NM_001042492.3(NF1):c.2326-2A>G rs1555613975
NM_001042492.3(NF1):c.2483del (p.Leu828fs) rs1131691069
NM_001042492.3(NF1):c.2540T>G (p.Leu847Arg) rs199474747
NM_001042492.3(NF1):c.2850+1G>A rs1131691122
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.3114-2A>G rs1428885377
NM_001042492.3(NF1):c.311T>G (p.Leu104Ter) rs1057521097
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_001042492.3(NF1):c.3784del (p.Ser1262fs) rs1567852567
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.3897del (p.Lys1299fs) rs878853890
NM_001042492.3(NF1):c.4042del (p.His1348fs) rs2067449536
NM_001042492.3(NF1):c.4076del (p.Pro1359fs) rs1135402852
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4431-1G>C rs1597746891
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly) rs199474743
NM_001042492.3(NF1):c.4489dup (p.Ser1497fs) rs2067664000
NM_001042492.3(NF1):c.4558C>T (p.Gln1520Ter) rs1060500242
NM_001042492.3(NF1):c.4819dup (p.Tyr1607fs) rs876658492
NM_001042492.3(NF1):c.4977_4980del (p.Lys1661fs) rs1085307459
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter) rs2069329774
NM_001042492.3(NF1):c.4989del (p.Phe1663fs) rs1567611380
NM_001042492.3(NF1):c.499_502del (p.Cys167fs) rs786201874
NM_001042492.3(NF1):c.5167C>T (p.Gln1723Ter) rs766727694
NM_001042492.3(NF1):c.5513_5514del (p.Ser1838fs) rs2508707480
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.5619del (p.Tyr1874fs) rs1555533842
NM_001042492.3(NF1):c.5671C>T (p.Gln1891Ter) rs878853904
NM_001042492.3(NF1):c.586+1G>A rs1555607126
NM_001042492.3(NF1):c.5907_5908del (p.Arg1970fs) rs863224835
NM_001042492.3(NF1):c.6007-2A>G rs1555534595
NM_001042492.3(NF1):c.6428-11T>G rs2151555896
NM_001042492.3(NF1):c.654+1G>T rs1060500245
NM_001042492.3(NF1):c.6590_6591del (p.Phe2197fs) rs2069707755
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6819+1G>A rs1555534964
NM_001042492.3(NF1):c.6819+1G>T rs1555534964
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter) rs1057518807
NM_001042492.3(NF1):c.7189+1G>C rs1555535455
NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs) rs1597858459
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.808C>T (p.Gln270Ter) rs1555608970
NM_001042492.3(NF1):c.888+1G>T rs1135402799
NM_001042492.3(NF1):c.889-1del rs2544793215
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950

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