ClinVar Miner

List of variants studied for benign peripheral nerve sheath tumor by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (21):
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ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699 0.00002
NM_006767.4(LZTR1):c.1889G>A (p.Arg630Gln) rs781776791 0.00001
NM_006767.4(LZTR1):c.401-2_401-1del rs769200796 0.00001
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_001042492.3(NF1):c.2252-3T>G rs1057518842
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr) rs1555618516
NM_001042492.3(NF1):c.4875C>G (p.Tyr1625Ter) rs1555533285
NM_001042492.3(NF1):c.5813-1G>A rs1057518974
NM_001042492.3(NF1):c.6704+2del rs1555534929
NM_003073.5(SMARCB1):c.*82C>T rs878854600
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp) rs1601405064
NM_006767.4(LZTR1):c.1556_1560dup (p.Phe521fs) rs1924721014
NM_006767.4(LZTR1):c.578A>G (p.Tyr193Cys) rs1870169267

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