ClinVar Miner

List of variants in gene EXT1 studied for Exostoses, multiple, type 1

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000127.3(EXT1):c.1761G>A (p.Glu587=) rs7837891 0.36094
NM_000127.3(EXT1):c.1065C>T (p.Cys355=) rs11546829 0.23625
NM_000127.3(EXT1):c.1431C>T (p.Pro477=) rs17439693 0.17547
NM_000127.3(EXT1):c.114A>G (p.Glu38=) rs17506447 0.01623
NM_000127.3(EXT1):c.117A>G (p.Glu39=) rs78429222 0.00558
NM_000127.3(EXT1):c.1959G>A (p.Glu653=) rs142710059 0.00404
NM_000127.3(EXT1):c.1633-26C>A rs188609829 0.00123
NM_000127.3(EXT1):c.1782G>A (p.Ala594=) rs61753261 0.00058
NM_000127.3(EXT1):c.1779C>T (p.Pro593=) rs143881630 0.00056
NM_000127.3(EXT1):c.1536+7G>A rs200128437 0.00041
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile) rs61753260 0.00024
NM_000127.3(EXT1):c.124G>A (p.Gly42Ser) rs368382074 0.00012
NM_000127.3(EXT1):c.1284+25G>A rs375754024 0.00010
NM_000127.3(EXT1):c.748T>A (p.Phe250Ile) rs920291906 0.00007
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile) rs201504622 0.00002
NM_000127.3(EXT1):c.2072G>A (p.Arg691His) rs746678682 0.00002
GRCh37/hg19 8q24.11(chr8:118825108-119054752)x3
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.1091G>A (p.Trp364Ter)
NM_000127.3(EXT1):c.1225C>T (p.Gln409Ter)
NM_000127.3(EXT1):c.1388del (p.Gly463fs)
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.1481C>T (p.Ser494Phe)
NM_000127.3(EXT1):c.1645C>T (p.Arg549Cys)
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.1702_1703dup (p.Val569fs)
NM_000127.3(EXT1):c.1722+1G>C
NM_000127.3(EXT1):c.1723-2A>T rs1823255835
NM_000127.3(EXT1):c.1884-3C>G rs2129694265
NM_000127.3(EXT1):c.2055+52_*298del
NM_000127.3(EXT1):c.2077del (p.Ala693fs) rs1823138986
NM_000127.3(EXT1):c.2098C>A (p.Gln700Lys)
NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter) rs1363815113
NM_000127.3(EXT1):c.2143A>G (p.Met715Val) rs1225915837
NM_000127.3(EXT1):c.2194C>T (p.Gln732Ter)
NM_000127.3(EXT1):c.2198_2203delinsAAGAGGACGGTCTT (p.Val733fs) rs2129679465
NM_000127.3(EXT1):c.301G>T (p.Glu101Ter)
NM_000127.3(EXT1):c.357C>A (p.Tyr119Ter) rs119103289
NM_000127.3(EXT1):c.398del (p.Asn133fs)
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.611_614dup (p.Glu205fs) rs2130042673
NM_000127.3(EXT1):c.651_665delinsTT (p.Lys218fs)
NM_000127.3(EXT1):c.654A>C (p.Lys218Asn)
NM_000127.3(EXT1):c.70G>T (p.Gly24Ter) rs1817893036
NM_000127.3(EXT1):c.713del (p.Ser238fs) rs2130042099
NM_000127.3(EXT1):c.844G>A (p.Ala282Thr)
NM_000127.3(EXT1):c.962+1G>C rs886039353
NM_000127.3(EXT1):c.962+3_962+6del rs1586279285
NM_000127.3(EXT1):c.976del (p.Glu326fs)

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