ClinVar Miner

List of variants reported as pathogenic for connective tissue neoplasm by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000127.3(EXT1):c.1551G>A (p.Trp517Ter)
NM_000127.3(EXT1):c.2077del (p.Ala693fs)
NM_000267.3(NF1):c.1721+3A>G rs1057518904
NM_000267.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550
NM_023110.3(FGFR1):c.1671del (p.Leu557fs)

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