ClinVar Miner

List of variants in gene NF1 reported by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) rs368654378 0.00009
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser) rs146641724 0.00003
NM_001042492.3(NF1):c.5423C>T (p.Thr1808Met) rs760649828 0.00002
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030 0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.204+1G>T rs886039548 0.00001
NM_001042492.3(NF1):c.2257G>A (p.Ala753Thr) rs758325102 0.00001
NM_001042492.3(NF1):c.2409+5G>A rs763688567 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001042492.3(NF1):c.1024A>G (p.Ile342Val) rs2066509214
NM_001042492.3(NF1):c.1374del (p.Ala459fs)
NM_001042492.3(NF1):c.1438A>T (p.Lys480Ter) rs2143959211
NM_001042492.3(NF1):c.1642-1G>A rs1555613185
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_001042492.3(NF1):c.1845G>C (p.Lys615Asn)
NM_001042492.3(NF1):c.1845G>T (p.Lys615Asn) rs1131691080
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.204+1G>A rs886039548
NM_001042492.3(NF1):c.2268del (p.Arg758fs) rs2151426865
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.244_247del (p.Ser82_Gln83insTer) rs771115661
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.2999G>C (p.Arg1000Pro) rs753082620
NM_001042492.3(NF1):c.3317A>G (p.Tyr1106Cys) rs1567850987
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs) rs1064794276
NM_001042492.3(NF1):c.3841G>A (p.Ala1281Thr) rs2151438011
NM_001042492.3(NF1):c.3870+1G>C rs1131691075
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4110+1G>A rs1555617383
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr) rs1555618516
NM_001042492.3(NF1):c.4369A>G (p.Lys1457Glu) rs878853893
NM_001042492.3(NF1):c.4724+1G>C rs1555619056
NM_001042492.3(NF1):c.4760del (p.Ala1586_Leu1587insTer) rs2151470108
NM_001042492.3(NF1):c.4812_4814delinsA (p.Ile1605fs) rs2508445662
NM_001042492.3(NF1):c.499_502del (p.Cys167fs) rs786201874
NM_001042492.3(NF1):c.5253dup (p.Lys1752fs) rs2508698683
NM_001042492.3(NF1):c.5269-2A>G rs1555533548
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.5687C>G (p.Ser1896Ter) rs1135402879
NM_001042492.3(NF1):c.587-1G>C rs2143773909
NM_001042492.3(NF1):c.6190T>A (p.Ser2064Thr) rs2508748116
NM_001042492.3(NF1):c.6299T>G (p.Leu2100Arg) rs1555534708
NM_001042492.3(NF1):c.6320_6345dup (p.Leu2116_Ser2117insLeuSerTer) rs2508749399
NM_001042492.3(NF1):c.6507del (p.Val2170fs)
NM_001042492.3(NF1):c.6704+1G>A rs1060500376
NM_001042492.3(NF1):c.6715C>T (p.Gln2239Ter) rs1131691093
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6921+1G>T rs1060500355
NM_001042492.3(NF1):c.6995C>G (p.Ser2332Ter) rs2151561754
NM_001042492.3(NF1):c.7152dup (p.Asn2385Ter) rs1555535434
NM_001042492.3(NF1):c.722del (p.Asp241fs)
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7615+5G>C
NM_001042492.3(NF1):c.91_92del (p.His31fs) rs1567814432

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