ClinVar Miner

List of variants reported as likely pathogenic for benign peripheral nerve sheath tumor by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.1889G>A (p.Arg630Gln) rs781776791 0.00001
NM_001042492.3(NF1):c.2252-3T>G rs1057518842
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr) rs1555618516
NM_001042492.3(NF1):c.5813-1G>A rs1057518974
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp) rs1601405064
NM_006767.4(LZTR1):c.1556_1560dup (p.Phe521fs) rs1924721014

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