ClinVar Miner

List of variants studied for connective tissue neoplasm by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (133):
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ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500 0.00136
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu) rs761210350 0.00006
NM_023110.3(FGFR1):c.937-14G>A rs779223305 0.00004
NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter) rs202057289 0.00003
NM_022124.6(CDH23):c.2729A>G (p.Tyr910Cys) rs557257494 0.00002
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp) rs749903780 0.00002
NM_022124.6(CDH23):c.1886A>T (p.Tyr629Phe) rs1297047638 0.00001
GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281)
NM_000127.3(EXT1):c.1551G>A (p.Trp517Ter) rs1811865335
NM_000127.3(EXT1):c.2077del (p.Ala693fs) rs1823138986
NM_000127.3(EXT1):c.564G>T (p.Arg188Ser) rs1817877271
NM_000143.4(FH):c.322C>T (p.Gln108Ter) rs1060499630
NM_001083603.3(PTCH1):c.109del (p.Cys37fs) rs1554710890
NM_022845.3(CBFB):c.295_296dup (p.Pro100fs) rs1961069899
NM_023110.3(FGFR1):c.1671del (p.Leu557fs) rs1816433701
NM_024529.5(CDC73):c.271C>T (p.Arg91Ter) rs1558280170
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr) rs1954089713

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