ClinVar Miner

List of variants in gene NF1 reported as pathogenic by MGZ Medical Genetics Center

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.1131del (p.Ile377fs) rs2544797164
NM_001042492.3(NF1):c.1185+1G>A rs864622161
NM_001042492.3(NF1):c.1260+1604A>G rs1131691067
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter) rs953440640
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.2650G>T (p.Glu884Ter) rs2151429357
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.3113+2T>G rs876658997
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4280T>G (p.Leu1427Ter) rs1177433867
NM_001042492.3(NF1):c.499_502del (p.Cys167fs) rs786201874
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5610-2A>G rs1135402876
NM_001042492.3(NF1):c.5665G>T (p.Glu1889Ter) rs764782945
NM_001042492.3(NF1):c.5693del (p.Leu1898fs) rs2508718446
NM_001042492.3(NF1):c.6516del (p.Ala2173fs) rs2508753466
NM_001042492.3(NF1):c.6854dup (p.Tyr2285Ter) rs876657715
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6912del (p.Asn2306fs) rs2508763208
NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs) rs1597858459
NM_001042492.3(NF1):c.7281del (p.Asp2427fs) rs2070077277
NM_001042492.3(NF1):c.731-1G>A rs1555608928
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367

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