ClinVar Miner

List of variants in gene NF1 reported as uncertain significance by MGZ Medical Genetics Center

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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954 0.00003
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys) rs369493270 0.00001
NM_001042492.3(NF1):c.5381T>G (p.Val1794Gly) rs142867979 0.00001
NM_001042492.3(NF1):c.1527+2dup rs1597698533
NM_001042492.3(NF1):c.3014T>C (p.Met1005Thr) rs1555614504
NM_001042492.3(NF1):c.3113+2T>C rs876658997
NM_001042492.3(NF1):c.3304T>G (p.Leu1102Val) rs2151433894
NM_001042492.3(NF1):c.341T>C (p.Leu114Pro) rs2143671371
NM_001042492.3(NF1):c.4226T>G (p.Met1409Arg) rs1555618508
NM_001042492.3(NF1):c.4290G>C (p.Lys1430Asn) rs373086572
NM_001042492.3(NF1):c.4431G>T (p.Arg1477Ser) rs181462219
NM_001042492.3(NF1):c.4927_4929delinsATA (p.Val1643Ile) rs1597829655
NM_001042492.3(NF1):c.5158G>C (p.Glu1720Gln) rs2069335393
NM_001042492.3(NF1):c.5812+5_5812+8del rs2508719800
NM_001042492.3(NF1):c.7762C>G (p.Gln2588Glu) rs1555536687
NM_001042492.3(NF1):c.8248A>G (p.Thr2750Ala) rs2508843096
NM_001042492.3(NF1):c.94A>G (p.Thr32Ala) rs2544680959

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