ClinVar Miner

List of variants reported as uncertain significance 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: 13
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HGVS dbSNP
GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281)
NM_000127.3(EXT1):c.564G>T (p.Arg188Ser)
NM_000368.4(TSC1):c.359T>C (p.Leu120Pro) rs1554820262
NM_000460.4(THPO):c.13G>A (p.Glu5Lys)
NM_001083602.2(PTCH1):c.-241del rs1554710890
NM_022124.6(CDH23):c.1886A>T (p.Tyr629Phe)
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500
NM_022124.6(CDH23):c.2729A>G (p.Tyr910Cys) rs557257494
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu) rs761210350
NM_022845.3(CBFB):c.295_296dup (p.Pro100fs)
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp)
NM_023110.3(FGFR1):c.937-14G>A
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr)

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