ClinVar Miner

List of variants reported as pathogenic for Chondrosarcoma

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000127.3(EXT1):c.1431dup (p.Ser478fs) rs1554578798
NM_000127.3(EXT1):c.1551G>A (p.Trp517Ter) rs1811865335
NM_000127.3(EXT1):c.2077del (p.Ala693fs) rs1823138986
NM_000127.3(EXT1):c.4C>T (p.Gln2Ter) rs1817895168
NM_000127.3(EXT1):c.528_535del (p.Lys177fs) rs587776540

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