ClinVar Miner

List of variants in gene NF1 reported as benign by Genome Diagnostics Laboratory, The Hospital for Sick Children

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.2544G>A (p.Gly848=) rs17883704 0.02535
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=) rs10512435 0.02270
NM_001042492.3(NF1):c.4929G>A (p.Val1643=) rs17880521 0.01527
NM_001042492.3(NF1):c.168C>T (p.Ser56=) rs17881168 0.01374
NM_001042492.3(NF1):c.7755C>T (p.Ser2585=) rs17881980 0.01075
NM_001042492.3(NF1):c.2022C>T (p.Ser674=) rs2230851 0.00908
NM_001042492.3(NF1):c.6393C>T (p.His2131=) rs17881788 0.00655
NM_001042492.3(NF1):c.2985G>C (p.Leu995=) rs17881467 0.00426
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_001042492.3(NF1):c.2553C>T (p.Cys851=) rs2230852 0.00190
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=) rs2285895 0.00050
NM_001042492.3(NF1):c.1933A>G (p.Met645Val) rs146051850 0.00032
NM_001042492.3(NF1):c.*4T>C rs201044568 0.00003
NM_001042492.3(NF1):c.3198-11_3198-4del rs371047262
NM_001042492.3(NF1):c.3198-4del rs371047262
NM_001042492.3(NF1):c.3198-4dup rs371047262
NM_001042492.3(NF1):c.3198-5_3198-4del rs371047262
NM_001042492.3(NF1):c.3198-5_3198-4dup rs371047262
NM_001042492.3(NF1):c.7190-33TTGT[3] rs149197458
NM_001042492.3(NF1):c.7971-8del rs564545012

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