ClinVar Miner

List of variants reported as not provided for Neurofibromatosis, type 1 by GenomeConnect, ClinGen

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile) rs145191978 0.00005
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.1801_1803del (p.Arg601del) rs1555613421
NM_001042492.3(NF1):c.1954C>T (p.Arg652Cys) rs786202436
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu) rs1567863004
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp) rs1060500316
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127

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