ClinVar Miner

List of variants in gene EXT1 reported as pathogenic for not provided

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Gene type:
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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000127.3(EXT1):c.1633-2A>G rs1233701691 0.00001
GRCh37/hg19 8q24.11(chr8:119102236-119147280)x1
NM_000127.3(EXT1):c.1016G>A (p.Gly339Asp) rs119103288
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.1056+1G>T rs886039354
NM_000127.3(EXT1):c.1092G>A (p.Trp364Ter) rs1554580035
NM_000127.3(EXT1):c.1147G>T (p.Glu383Ter) rs1057520535
NM_000127.3(EXT1):c.115del (p.Glu39fs) rs1586280217
NM_000127.3(EXT1):c.1165-1G>A rs1812078423
NM_000127.3(EXT1):c.1215_1218del (p.Arg405fs) rs1369118661
NM_000127.3(EXT1):c.1225C>T (p.Gln409Ter)
NM_000127.3(EXT1):c.1235G>A (p.Trp412Ter) rs1563573730
NM_000127.3(EXT1):c.1236G>A (p.Trp412Ter) rs1587001428
NM_000127.3(EXT1):c.1237del (p.Glu413fs)
NM_000127.3(EXT1):c.1323_1324del (p.Asn441fs) rs1586997875
NM_000127.3(EXT1):c.1417+1G>T rs1586997796
NM_000127.3(EXT1):c.1431del (p.Ser478fs) rs1554578798
NM_000127.3(EXT1):c.1431dup (p.Ser478fs) rs1554578798
NM_000127.3(EXT1):c.1461_1465del (p.Thr488fs) rs1586996629
NM_000127.3(EXT1):c.1468del (p.Leu490fs) rs886039355
NM_000127.3(EXT1):c.1468dup (p.Leu490fs) rs886039355
NM_000127.3(EXT1):c.1469del (p.Leu490fs) rs886039356
NM_000127.3(EXT1):c.1536+1G>A rs1811889441
NM_000127.3(EXT1):c.1557T>A (p.Cys519Ter) rs1554578706
NM_000127.3(EXT1):c.1575del (p.Lys526fs)
NM_000127.3(EXT1):c.15dup (p.Arg6fs) rs759834555
NM_000127.3(EXT1):c.1633-1G>T rs1823354043
NM_000127.3(EXT1):c.1685_1701dup (p.Thr568fs) rs1554657927
NM_000127.3(EXT1):c.1726_1727insT (p.Asp576fs) rs1064794137
NM_000127.3(EXT1):c.1746G>A (p.Trp582Ter) rs1586990398
NM_000127.3(EXT1):c.1810G>T (p.Glu604Ter) rs1554657437
NM_000127.3(EXT1):c.1878C>G (p.Tyr626Ter) rs886039357
NM_000127.3(EXT1):c.1884-1G>C rs1131691623
NM_000127.3(EXT1):c.1909dup (p.Tyr637fs)
NM_000127.3(EXT1):c.2000T>A (p.Leu667Ter) rs1131692020
NM_000127.3(EXT1):c.2034T>G (p.Tyr678Ter) rs1554657213
NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter) rs1363815113
NM_000127.3(EXT1):c.247del (p.Arg83fs) rs1554601559
NM_000127.3(EXT1):c.247dup (p.Arg83fs) rs1554601559
NM_000127.3(EXT1):c.250C>T (p.Gln84Ter) rs1064793753
NM_000127.3(EXT1):c.313del (p.Asp105fs) rs1554601550
NM_000127.3(EXT1):c.357C>A (p.Tyr119Ter) rs119103289
NM_000127.3(EXT1):c.362del (p.Gln121fs) rs1064793465
NM_000127.3(EXT1):c.416del (p.Glu139fs) rs1817880834
NM_000127.3(EXT1):c.456C>A (p.Cys152Ter) rs1554601534
NM_000127.3(EXT1):c.45_46del (p.Cys16fs) rs2130045941
NM_000127.3(EXT1):c.490_491del (p.Asp164fs) rs1817879125
NM_000127.3(EXT1):c.535C>T (p.Gln179Ter) rs886039561
NM_000127.3(EXT1):c.538_539del (p.Leu181fs) rs886039486
NM_000127.3(EXT1):c.61_62insAA (p.Phe21Ter) rs1064795778
NM_000127.3(EXT1):c.637C>T (p.Gln213Ter) rs2130042549
NM_000127.3(EXT1):c.70G>T (p.Gly24Ter) rs1817893036
NM_000127.3(EXT1):c.713del (p.Ser238fs) rs2130042099
NM_000127.3(EXT1):c.719del (p.Asp240fs) rs1817872593
NM_000127.3(EXT1):c.742del (p.Arg248fs)
NM_000127.3(EXT1):c.819_820del (p.Gly274fs) rs886041699
NM_000127.3(EXT1):c.852T>A (p.Tyr284Ter) rs1057520608
NM_000127.3(EXT1):c.854dup (p.His285fs) rs1554601476
NM_000127.3(EXT1):c.913C>T (p.Gln305Ter) rs1554601474
NM_000127.3(EXT1):c.917dup (p.His307fs) rs1554601473
NM_000127.3(EXT1):c.962+1G>T rs886039353
NM_000127.3(EXT1):c.963-1G>C rs1554580160
NM_000127.3(EXT1):c.972T>A (p.Tyr324Ter) rs1554580158

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