ClinVar Miner

List of variants reported as likely benign for neurofibromatosis, familial spinal by KCCC/NGS Laboratory, Kuwait Cancer Control Center

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.655-29T>C rs182325576 0.00240
NM_001042492.3(NF1):c.8161-45A>C rs17879551 0.00176
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00124
NM_001042492.3(NF1):c.8114-70A>T rs192112633 0.00088
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val) rs146315101 0.00031
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=) rs141077224 0.00009
NM_001042492.3(NF1):c.3727C>T (p.Leu1243=) rs750993436 0.00007
NM_001042492.3(NF1):c.6315C>T (p.His2105=) rs145732909 0.00005
NM_001042492.3(NF1):c.6528T>C (p.Ile2176=) rs147522129 0.00005
NM_001042492.3(NF1):c.61-9T>C rs780956522 0.00004
NM_001042492.3(NF1):c.6600A>C (p.Thr2200=) rs747576584 0.00004
NM_001042492.3(NF1):c.3315-8T>C rs764783865 0.00003
NM_001042492.3(NF1):c.6378C>T (p.Val2126=) rs760941036 0.00002
NM_001042492.3(NF1):c.3039G>A (p.Thr1013=) rs876660168 0.00001
NM_001042492.3(NF1):c.5280T>C (p.Thr1760=) rs779104728 0.00001
NM_001042492.3(NF1):c.6189A>G (p.Leu2063=) rs1060503911 0.00001
NM_001042492.3(NF1):c.6927G>A (p.Ser2309=) rs763028083 0.00001
NM_001042492.3(NF1):c.7305C>T (p.Ser2435=) rs369754180 0.00001
NM_001042492.3(NF1):c.2226C>G (p.Ala742=) rs1060503912
NM_001042492.3(NF1):c.5496A>G (p.Glu1832=) rs1555533613
NM_001042492.3(NF1):c.5517C>A (p.Ile1839=) rs865839207
NM_001042492.3(NF1):c.624G>A (p.Ala208=) rs370184932
NM_001042492.3(NF1):c.8161-8C>T rs1425972521

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