ClinVar Miner

List of variants reported as uncertain significance for Neurofibromatosis, type 1 by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.2032C>G (p.Pro678Ala) rs758691069 0.00013
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) rs368654378 0.00009
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile) rs145191978 0.00005
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln) rs560262404 0.00003
NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn) rs934837854 0.00002
NM_001042492.3(NF1):c.1264G>A (p.Ala422Thr) rs786202145 0.00001
NM_001042492.3(NF1):c.1319G>A (p.Arg440Gln) rs1466678870 0.00001
NM_001042492.3(NF1):c.2054C>G (p.Thr685Ser) rs876658190 0.00001
NM_001042492.3(NF1):c.2581G>C (p.Ala861Pro) rs768425956 0.00001
NM_001042492.3(NF1):c.3315-5C>T rs1266211447 0.00001
NM_001042492.3(NF1):c.7135G>A (p.Gly2379Arg) rs775476318 0.00001
NM_001042492.3(NF1):c.7211C>T (p.Ala2404Val) rs771706364 0.00001
NM_001042492.3(NF1):c.7349G>A (p.Arg2450Gln) rs533110479 0.00001
NM_001042492.3(NF1):c.7700C>T (p.Pro2567Leu) rs754511534 0.00001
NM_001042492.3(NF1):c.7897G>A (p.Glu2633Lys) rs750754640 0.00001
NM_001042492.3(NF1):c.8515G>A (p.Val2839Met) rs368149035 0.00001
NM_001042492.3(NF1):c.1024A>G (p.Ile342Val) rs2066509214
NM_001042492.3(NF1):c.2002-4_2002-3del rs786203664
NM_001042492.3(NF1):c.2251+4A>T rs2067021300
NM_001042492.3(NF1):c.2567G>A (p.Ser856Asn) rs2151429147
NM_001042492.3(NF1):c.295A>C (p.Lys99Gln) rs2065791967
NM_001042492.3(NF1):c.40G>T (p.Val14Phe) rs2143145306
NM_001042492.3(NF1):c.4430+1G>A rs773151680
NM_001042492.3(NF1):c.5375G>C (p.Cys1792Ser) rs1263046457
NM_001042492.3(NF1):c.5851C>G (p.Pro1951Ala) rs1555534391
NM_001042492.3(NF1):c.6159G>T (p.Arg2053Ser)
NM_001042492.3(NF1):c.6323C>T (p.Thr2108Ile) rs876658920
NM_001042492.3(NF1):c.7568G>A (p.Ser2523Asn) rs2151577300
NM_001042492.3(NF1):c.8288C>T (p.Pro2763Leu)

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