ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.204+1G>T rs886039548 0.00001
NM_001042492.3(NF1):c.1374del (p.Ala459fs)
NM_001042492.3(NF1):c.1845G>C (p.Lys615Asn)
NM_001042492.3(NF1):c.1845G>T (p.Lys615Asn) rs1131691080
NM_001042492.3(NF1):c.204+1G>A rs886039548
NM_001042492.3(NF1):c.2268del (p.Arg758fs) rs2151426865
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.2999G>C (p.Arg1000Pro) rs753082620
NM_001042492.3(NF1):c.3870+1G>C rs1131691075
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.5253dup (p.Lys1752fs) rs2508698683
NM_001042492.3(NF1):c.587-1G>C rs2143773909
NM_001042492.3(NF1):c.6320_6345dup (p.Leu2116_Ser2117insLeuSerTer) rs2508749399
NM_001042492.3(NF1):c.6507del (p.Val2170fs)
NM_001042492.3(NF1):c.6921+1G>T rs1060500355
NM_001042492.3(NF1):c.722del (p.Asp241fs)

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