ClinVar Miner

List of variants in gene EXT1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_000127.3(EXT1):c.1537-51A>G rs10955837 0.50801
NM_000127.3(EXT1):c.1722+202T>C rs10955835 0.47020
NM_000127.3(EXT1):c.1633-154G>A rs4382503 0.38686
NM_000127.3(EXT1):c.1761G>A (p.Glu587=) rs7837891 0.36094
NM_000127.3(EXT1):c.1285-116G>A rs4355803 0.27438
NM_000127.3(EXT1):c.1537-125G>A rs4876757 0.26405
NM_000127.3(EXT1):c.1056+201A>G rs17452694 0.25325
NM_000127.3(EXT1):c.1065C>T (p.Cys355=) rs11546829 0.23625
NM_000127.3(EXT1):c.1165-156G>T rs9642837 0.23193
NM_000127.3(EXT1):c.1285-301C>T rs4366105 0.22457
NM_000127.3(EXT1):c.1431C>T (p.Pro477=) rs17439693 0.17547
NM_000127.3(EXT1):c.1536+261A>G rs2067866 0.10658
NM_000127.3(EXT1):c.1537-223A>G rs10102974 0.10270
NM_000127.3(EXT1):c.1417+220T>G rs10107623 0.09036
NM_000127.3(EXT1):c.1284+285C>T rs17503377 0.09008
NM_000127.3(EXT1):c.1723-103C>G rs17479145 0.08924
NM_000127.3(EXT1):c.-266C>T rs76805972 0.04072
NM_000127.3(EXT1):c.962+78del rs112373962 0.03380
NM_000127.2(EXT1):c.-774C>G rs112317221 0.02171
NM_000127.3(EXT1):c.114A>G (p.Glu38=) rs17506447 0.01623
NM_000127.3(EXT1):c.1164+220A>G rs56857154 0.01231
NM_000127.3(EXT1):c.1284+127T>C rs17503384 0.00931
NM_000127.3(EXT1):c.1537-201C>G rs149824224 0.00870
NM_000127.3(EXT1):c.117A>G (p.Glu39=) rs78429222 0.00558
NM_000127.3(EXT1):c.963-45T>C rs17503481 0.00411
NM_000127.3(EXT1):c.1959G>A (p.Glu653=) rs142710059 0.00404
NM_000127.3(EXT1):c.1782G>A (p.Ala594=) rs61753261 0.00058
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile) rs61753260 0.00024
NM_000127.3(EXT1):c.1117A>G (p.Asn373Asp) rs142122090 0.00009
NM_000127.3(EXT1):c.591C>T (p.Ser197=) rs770795716 0.00004
NM_000127.3(EXT1):c.1279C>G (p.Leu427Val) rs773539946 0.00001
NM_000127.3(EXT1):c.452C>A (p.Ala151Glu) rs1385688129 0.00001
NM_000127.3(EXT1):c.*144del rs71739430
NM_000127.3(EXT1):c.*144dup rs71739430
NM_000127.3(EXT1):c.1015_1017del (p.Gly339del) rs1057518031
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.1021A>G (p.Arg341Gly) rs1554580149
NM_000127.3(EXT1):c.1021A>T (p.Arg341Trp) rs1554580149
NM_000127.3(EXT1):c.1027G>A (p.Gly343Arg) rs978347552
NM_000127.3(EXT1):c.1056+1G>T rs886039354
NM_000127.3(EXT1):c.1057-2A>C
NM_000127.3(EXT1):c.1057-3C>G
NM_000127.3(EXT1):c.1070C>G (p.Pro357Arg) rs1131691337
NM_000127.3(EXT1):c.1092G>A (p.Trp364Ter) rs1554580035
NM_000127.3(EXT1):c.1129G>A (p.Ala377Thr) rs1812173796
NM_000127.3(EXT1):c.1147G>T (p.Glu383Ter) rs1057520535
NM_000127.3(EXT1):c.115del (p.Glu39fs) rs1586280217
NM_000127.3(EXT1):c.1164+1del rs1057518623
NM_000127.3(EXT1):c.1165-121A>G rs17503398
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.1333T>C (p.Trp445Arg) rs1554579012
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.1536+91_1536+99del rs35834568
NM_000127.3(EXT1):c.1537-149C>G rs17430063
NM_000127.3(EXT1):c.1537-2A>C rs1554578710
NM_000127.3(EXT1):c.1557T>A (p.Cys519Ter) rs1554578706
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.1884-137CAT[6] rs369846524
NM_000127.3(EXT1):c.1884-1G>C rs1131691623
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.2133G>A (p.Trp711Ter) rs2129679879
NM_000127.3(EXT1):c.2191G>C (p.Asp731His) rs2129679539
NM_000127.3(EXT1):c.2233C>T (p.Arg745Ter) rs756691505
NM_000127.3(EXT1):c.237C>A (p.His79Gln)
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.256C>A (p.Arg86=) rs760899584
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.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.579dup (p.Asn194Ter) rs1554601519
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.692A>T (p.Asp231Val)
NM_000127.3(EXT1):c.713del (p.Ser238fs) rs2130042099
NM_000127.3(EXT1):c.742del (p.Arg248fs)
NM_000127.3(EXT1):c.802G>C (p.Gly268Arg) rs1554601492
NM_000127.3(EXT1):c.803G>A (p.Gly268Glu) rs886039352
NM_000127.3(EXT1):c.812A>G (p.Tyr271Cys) rs1064793786
NM_000127.3(EXT1):c.819_820del (p.Gly274fs) rs886041699
NM_000127.3(EXT1):c.840G>C (p.Arg280Ser) rs1563659325
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.962+287A>G rs3757991
NM_000127.3(EXT1):c.962+8_962+11del rs138812713
NM_000127.3(EXT1):c.963-1G>C rs1554580160
NM_000127.3(EXT1):c.972T>A (p.Tyr324Ter) rs1554580158

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