ClinVar Miner

List of variants in gene NF1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.7998C>T (p.Asn2666=) rs747307832 0.00024
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) rs368654378 0.00009
NM_001042492.3(NF1):c.61-16301G>A rs1251741983 0.00005
NM_001042492.3(NF1):c.4111-4G>A rs764877783 0.00004
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser) rs779727341 0.00003
NM_001042492.3(NF1):c.1975C>T (p.Arg659Trp) rs757512142 0.00003
NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile) rs199474755 0.00002
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys) rs369493270 0.00001
NM_001042492.3(NF1):c.4187G>A (p.Arg1396His) rs368685980 0.00001
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr) rs754639587 0.00001
NM_001042492.3(NF1):c.5116C>T (p.Leu1706Phe) rs769087878 0.00001
NM_001042492.3(NF1):c.1527+2dup rs1597698533
NM_001042492.3(NF1):c.1751A>G (p.Lys584Arg)
NM_001042492.3(NF1):c.1771C>G (p.Leu591Val) rs767247726
NM_001042492.3(NF1):c.3025A>G (p.Ile1009Val) rs1597716866
NM_001042492.3(NF1):c.3113+4A>C
NM_001042492.3(NF1):c.3197+3A>T rs1359512152
NM_001042492.3(NF1):c.3841G>A (p.Ala1281Thr) rs2151438011
NM_001042492.3(NF1):c.3974+260T>G rs1567853044
NM_001042492.3(NF1):c.4072C>T (p.Pro1358Ser) rs1555617359
NM_001042492.3(NF1):c.4332+22_4332+25del rs768273651
NM_001042492.3(NF1):c.4578-31_4578-30insAGGGAAA
NM_001042492.3(NF1):c.476C>T (p.Thr159Ile)
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp) rs1060500316
NM_001042492.3(NF1):c.5314G>C (p.Val1772Leu) rs1567612377
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro) rs2151541565
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del) rs1131691081
NM_001042492.3(NF1):c.5787G>T (p.Glu1929Asp) rs786202591
NM_001042492.3(NF1):c.5924T>C (p.Leu1975Pro) rs1555534411
NM_001042492.3(NF1):c.6427+8C>A rs864622598
NM_001042492.3(NF1):c.6871A>C (p.Ile2291Leu) rs876659722
NM_001042492.3(NF1):c.6921+6T>G rs368541645
NM_001042492.3(NF1):c.7072G>A (p.Glu2358Lys) rs2069865899
NM_001042492.3(NF1):c.7190-8T>G rs2070072794
NM_001042492.3(NF1):c.7256T>G (p.Leu2419Arg) rs2070075780
NM_001042492.3(NF1):c.7387C>G (p.Leu2463Val) rs2070105859
NM_001042492.3(NF1):c.7415C>G (p.Pro2472Arg) rs786202184
NM_001042492.3(NF1):c.7447C>T (p.Pro2483Ser) rs1291550449
NM_001042492.3(NF1):c.8104T>C (p.Tyr2702His)
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met) rs144178015
NM_001042492.3(NF1):c.955A>G (p.Ser319Gly)

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