ClinVar Miner

List of variants in gene NF1 reported by Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden

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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00380
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_001042492.3(NF1):c.8377+1659C>T rs572658615 0.00008
NM_001042492.3(NF1):c.7006G>A (p.Ala2336Thr) rs587781428 0.00006
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys) rs199474739 0.00002
NM_001042492.3(NF1):c.2345C>G (p.Ala782Gly) rs1203924788 0.00001
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.5167C>G (p.Gln1723Glu) rs766727694 0.00001
NM_001042492.3(NF1):c.5458A>C (p.Ile1820Leu) rs786202459 0.00001
NM_001042492.3(NF1):c.5812+332A>G rs863224491 0.00001
NM_001042492.3(NF1):c.6806G>A (p.Arg2269His) rs562367786 0.00001
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser) rs763082717 0.00001
NM_001042492.3(NF1):c.8378-4C>T rs587782700 0.00001
NM_001042492.3(NF1):c.1371C>A (p.His457Gln) rs1318894606
NM_001042492.3(NF1):c.1393-1G>A rs1131691131
NM_001042492.3(NF1):c.1400del (p.Thr467fs) rs1135402808
NM_001042492.3(NF1):c.1498_1500del (p.Ile500del) rs2143960261
NM_001042492.3(NF1):c.1602_1603del (p.Gln535fs) rs2143986796
NM_001042492.3(NF1):c.3028C>T (p.Gln1010Ter) rs2151431557
NM_001042492.3(NF1):c.3296A>C (p.Lys1099Thr) rs2151433877
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter) rs2067193761
NM_001042492.3(NF1):c.4058C>T (p.Ser1353Phe) rs1555617346
NM_001042492.3(NF1):c.4103T>C (p.Leu1368Ser) rs1597735265
NM_001042492.3(NF1):c.4333-230A>G rs2508412024
NM_001042492.3(NF1):c.4724+1102A>C rs2508435890
NM_001042492.3(NF1):c.4973_4974del (p.Phe1658fs) rs2069329470
NM_001042492.3(NF1):c.5260T>C (p.Ser1754Pro) rs891138800
NM_001042492.3(NF1):c.563C>A (p.Ala188Glu) rs1060500309
NM_001042492.3(NF1):c.569T>A (p.Leu190Ter) rs1555607112
NM_001042492.3(NF1):c.5812+4A>G rs1597834988
NM_001042492.3(NF1):c.60+29485G>A rs2544589571
NM_001042492.3(NF1):c.6352dup (p.Leu2118fs) rs2151554927
NM_001042492.3(NF1):c.6571T>C (p.Ser2191Pro) rs754630324
NM_001042492.3(NF1):c.6820-6T>C rs1597845896
NM_001042492.3(NF1):c.7063-1G>T rs1131691114
NM_001042492.3(NF1):c.7523A>T (p.Tyr2508Phe) rs762169098

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