ClinVar Miner

List of variants reported as pathogenic for Exostoses, multiple, type 1

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Total variants: 29
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 8q24.11(chr8:118825108-119054752)x3
GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1
NM_000127.3(EXT1):c.1016G>A (p.Gly339Asp) rs119103288
NM_000127.3(EXT1):c.1018C>G (p.Arg340Gly) rs119103290
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys) rs119103290
NM_000127.3(EXT1):c.1019G>A (p.Arg340His) rs119103287
NM_000127.3(EXT1):c.1019G>T (p.Arg340Leu) rs119103287
NM_000127.3(EXT1):c.1049_1056+1del
NM_000127.3(EXT1):c.1225C>T (p.Gln409Ter)
NM_000127.3(EXT1):c.1418-2A>G rs1554578802
NM_000127.3(EXT1):c.1468dup (p.Leu490fs) rs886039355
NM_000127.3(EXT1):c.1469del (p.Leu490fs) rs886039356
NM_000127.3(EXT1):c.1477C>T (p.Gln493Ter) rs1811890821
NM_000127.3(EXT1):c.1656del (p.Tyr553fs) rs1823353269
NM_000127.3(EXT1):c.165G>A (p.Trp55Ter) rs1586280132
NM_000127.3(EXT1):c.1664dup (p.Asn555fs) rs1586993159
NM_000127.3(EXT1):c.1722+1G>C
NM_000127.3(EXT1):c.2055+52_*298del
NM_000127.3(EXT1):c.2077del (p.Ala693fs) rs1823138986
NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter) rs1363815113
NM_000127.3(EXT1):c.357C>A (p.Tyr119Ter) rs119103289
NM_000127.3(EXT1):c.416_419dup (p.Ser141fs) rs2130043564
NM_000127.3(EXT1):c.4C>T (p.Gln2Ter) rs1817895168
NM_000127.3(EXT1):c.521del (p.Asn173_Leu174insTer) rs1554601526
NM_000127.3(EXT1):c.651_665delinsTT (p.Lys218fs)
NM_000127.3(EXT1):c.70G>T (p.Gly24Ter) rs1817893036
NM_000127.3(EXT1):c.713del (p.Ser238fs) rs2130042099
NM_000127.3(EXT1):c.962+1G>C rs886039353
NM_000127.3(EXT1):c.962+3_962+6del rs1586279285

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