ClinVar Miner

List of variants in gene EXT1 reported as likely benign for bone remodeling disease

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_000127.3(EXT1):c.1959G>A (p.Glu653=) rs142710059 0.00404
NM_000127.3(EXT1):c.1359C>T (p.Phe453=) rs148922894 0.00067
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.1319G>A (p.Arg440His) rs144550328 0.00019
NM_000127.3(EXT1):c.1612G>A (p.Val538Ile) rs767492816 0.00015
NM_000127.3(EXT1):c.1749G>C (p.Gln583His) rs575895733 0.00014
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.1430C>G (p.Pro477Arg) rs145720047 0.00010
NM_000127.3(EXT1):c.1674A>G (p.Thr558=) rs202051061 0.00009
NM_000127.3(EXT1):c.963-16C>T rs369462786 0.00009
NM_000127.3(EXT1):c.1609G>A (p.Val537Ile) rs144397063 0.00007
NM_000127.3(EXT1):c.1659C>T (p.Tyr553=) rs757115396 0.00006
NM_000127.3(EXT1):c.214G>A (p.Glu72Lys) rs150818931 0.00006
NM_000127.3(EXT1):c.1722+9C>T rs371055794 0.00005
NM_000127.3(EXT1):c.2062C>T (p.Arg688Trp) rs138855109 0.00005
NM_000127.3(EXT1):c.543C>T (p.Leu181=) rs375583188 0.00005
NM_000127.3(EXT1):c.1695C>T (p.Asp565=) rs762218262 0.00004
NM_000127.3(EXT1):c.1743G>A (p.Val581=) rs375284779 0.00004
NM_000127.3(EXT1):c.591C>T (p.Ser197=) rs770795716 0.00004
NM_000127.3(EXT1):c.609C>T (p.Tyr203=) rs886042484 0.00004
NM_000127.3(EXT1):c.1285-9A>G rs761040629 0.00003
NM_000127.3(EXT1):c.1293G>A (p.Gln431=) rs773449892 0.00003
NM_000127.3(EXT1):c.1781C>G (p.Ala594Gly) rs374887549 0.00003
NM_000127.3(EXT1):c.1899A>G (p.Leu633=) rs368191286 0.00003
NM_000127.3(EXT1):c.1338C>T (p.Asn446=) rs745637397 0.00002
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile) rs201504622 0.00002
NM_000127.3(EXT1):c.148A>G (p.Ser50Gly) rs772811741 0.00002
NM_000127.3(EXT1):c.1509T>A (p.Ala503=) rs949806342 0.00002
NM_000127.3(EXT1):c.1608C>T (p.Val536=) rs761252195 0.00002
NM_000127.3(EXT1):c.195C>T (p.Phe65=) rs1202105470 0.00002
NM_000127.3(EXT1):c.2106G>A (p.Gln702=) rs780640885 0.00002
NM_000127.3(EXT1):c.210A>G (p.Gln70=) rs367543871 0.00002
NM_000127.3(EXT1):c.2148G>A (p.Pro716=) rs757499157 0.00002
NM_000127.3(EXT1):c.2172C>T (p.Leu724=) rs570085150 0.00002
NM_000127.3(EXT1):c.66T>C (p.Tyr22=) rs764093488 0.00002
NM_000127.3(EXT1):c.699T>C (p.Ser233=) rs370644296 0.00002
NM_000127.3(EXT1):c.768C>T (p.Ile256=) rs566692634 0.00002
NM_000127.3(EXT1):c.962+7G>C rs778490814 0.00002
NM_000127.3(EXT1):c.1014T>G (p.Arg338=) rs750458103 0.00001
NM_000127.3(EXT1):c.1164+8A>G rs765877825 0.00001
NM_000127.3(EXT1):c.123C>T (p.Ser41=) rs1186563531 0.00001
NM_000127.3(EXT1):c.1266T>A (p.Ile422=) rs899395870 0.00001
NM_000127.3(EXT1):c.1284+19C>T rs774601928 0.00001
NM_000127.3(EXT1):c.1354T>C (p.Leu452=) rs1372000855 0.00001
NM_000127.3(EXT1):c.1467C>G (p.Pro489=) rs747800473 0.00001
NM_000127.3(EXT1):c.1545T>A (p.Val515=) rs200372337 0.00001
NM_000127.3(EXT1):c.1704G>A (p.Thr568=) rs146389596 0.00001
NM_000127.3(EXT1):c.1740A>G (p.Thr580=) rs1340368285 0.00001
NM_000127.3(EXT1):c.1758T>C (p.Pro586=) rs771063505 0.00001
NM_000127.3(EXT1):c.1839G>A (p.Thr613=) rs765677175 0.00001
NM_000127.3(EXT1):c.1920C>T (p.Ala640=) rs1480072354 0.00001
NM_000127.3(EXT1):c.2010C>T (p.Ile670=) rs745677100 0.00001
NM_000127.3(EXT1):c.2055+17C>T rs1295508874 0.00001
NM_000127.3(EXT1):c.2055+7A>C rs889836376 0.00001
NM_000127.3(EXT1):c.2121G>A (p.Thr707=) rs746184779 0.00001
NM_000127.3(EXT1):c.2199C>G (p.Val733=) rs201230140 0.00001
NM_000127.3(EXT1):c.303G>A (p.Glu101=) rs893833607 0.00001
NM_000127.3(EXT1):c.405A>G (p.Leu135=) rs1401060657 0.00001
NM_000127.3(EXT1):c.69C>T (p.Phe23=) rs200276819 0.00001
NM_000127.3(EXT1):c.1038A>G (p.Arg346=) rs2129791072
NM_000127.3(EXT1):c.1050T>G (p.Ala350=) rs751521449
NM_000127.3(EXT1):c.1101A>G (p.Pro367=)
NM_000127.3(EXT1):c.1134C>T (p.Ala378=)
NM_000127.3(EXT1):c.1137C>T (p.Val379=)
NM_000127.3(EXT1):c.1164+15G>A
NM_000127.3(EXT1):c.1165-4A>G
NM_000127.3(EXT1):c.1231T>C (p.Leu411=)
NM_000127.3(EXT1):c.1239G>A (p.Glu413=) rs756701753
NM_000127.3(EXT1):c.1263G>A (p.Lys421=) rs2129772013
NM_000127.3(EXT1):c.1269A>G (p.Val423=)
NM_000127.3(EXT1):c.1284+12del
NM_000127.3(EXT1):c.1284+20T>C
NM_000127.3(EXT1):c.1284+7G>A
NM_000127.3(EXT1):c.1285-6T>G
NM_000127.3(EXT1):c.1297A>C (p.Arg433=) rs1037557280
NM_000127.3(EXT1):c.1368A>G (p.Pro456=)
NM_000127.3(EXT1):c.1383T>C (p.Tyr461=)
NM_000127.3(EXT1):c.1417+16C>T
NM_000127.3(EXT1):c.1417+19G>C
NM_000127.3(EXT1):c.1418-13C>T
NM_000127.3(EXT1):c.1418-13_1418-11del rs1203626052
NM_000127.3(EXT1):c.1418-20T>C rs376258820
NM_000127.3(EXT1):c.1418-7A>G
NM_000127.3(EXT1):c.1418-8T>G
NM_000127.3(EXT1):c.141C>T (p.His47=)
NM_000127.3(EXT1):c.1425G>A (p.Lys475=) rs1442814688
NM_000127.3(EXT1):c.1458G>A (p.Ala486=) rs765275156
NM_000127.3(EXT1):c.147C>T (p.Pro49=) rs1248782526
NM_000127.3(EXT1):c.1503C>T (p.Leu501=) rs146108006
NM_000127.3(EXT1):c.1515C>A (p.Ala505=) rs2129740778
NM_000127.3(EXT1):c.1536+11A>G
NM_000127.3(EXT1):c.153G>A (p.Pro51=)
NM_000127.3(EXT1):c.1599T>C (p.Ala533=)
NM_000127.3(EXT1):c.1611C>T (p.Val537=)
NM_000127.3(EXT1):c.1632+10G>A
NM_000127.3(EXT1):c.1632+16G>A
NM_000127.3(EXT1):c.1632+16G>C
NM_000127.3(EXT1):c.1632+9C>A rs368634215
NM_000127.3(EXT1):c.1633-14C>G
NM_000127.3(EXT1):c.1633-15T>A
NM_000127.3(EXT1):c.1633-16T>C
NM_000127.3(EXT1):c.1635T>G (p.Val545=)
NM_000127.3(EXT1):c.166C>G (p.Pro56Ala) rs368004125
NM_000127.3(EXT1):c.1677C>T (p.Asp559=) rs752594306
NM_000127.3(EXT1):c.1722+11A>G
NM_000127.3(EXT1):c.1723-17T>A rs2129702062
NM_000127.3(EXT1):c.1731C>T (p.Phe577=)
NM_000127.3(EXT1):c.1842C>T (p.Asn614=)
NM_000127.3(EXT1):c.1845C>T (p.Asp615=) rs2129701116
NM_000127.3(EXT1):c.1848C>T (p.Tyr616=)
NM_000127.3(EXT1):c.1872T>C (p.Ala624=) rs1823251633
NM_000127.3(EXT1):c.1883+14A>T
NM_000127.3(EXT1):c.1887T>C (p.Tyr629=) rs1823215215
NM_000127.3(EXT1):c.1944A>G (p.Gln648=)
NM_000127.3(EXT1):c.1945T>C (p.Leu649=)
NM_000127.3(EXT1):c.1983G>A (p.Val661=) rs962526270
NM_000127.3(EXT1):c.1998A>G (p.Lys666=)
NM_000127.3(EXT1):c.2016G>A (p.Val672=)
NM_000127.3(EXT1):c.2043A>T (p.Thr681=) rs746481404
NM_000127.3(EXT1):c.2055+10G>A
NM_000127.3(EXT1):c.2055+20del
NM_000127.3(EXT1):c.2056-14C>G
NM_000127.3(EXT1):c.2056-14C>T rs759290391
NM_000127.3(EXT1):c.2067T>G (p.Ala689=)
NM_000127.3(EXT1):c.2079T>C (p.Ala693=)
NM_000127.3(EXT1):c.211T>C (p.Leu71=)
NM_000127.3(EXT1):c.2179G>A (p.Val727Ile)
NM_000127.3(EXT1):c.2199C>T (p.Val733=) rs201230140
NM_000127.3(EXT1):c.240T>C (p.Ile80=)
NM_000127.3(EXT1):c.243C>A (p.Ser81=) rs916118962
NM_000127.3(EXT1):c.315T>C (p.Asp105=)
NM_000127.3(EXT1):c.384C>G (p.Ala128=)
NM_000127.3(EXT1):c.414C>T (p.Ile138=)
NM_000127.3(EXT1):c.423C>T (p.Ser141=) rs2130043533
NM_000127.3(EXT1):c.441C>T (p.Asp147=)
NM_000127.3(EXT1):c.453G>C (p.Ala151=) rs780843781
NM_000127.3(EXT1):c.465C>T (p.Val155=)
NM_000127.3(EXT1):c.528C>G (p.Ser176=)
NM_000127.3(EXT1):c.558T>C (p.Asn186=) rs1817877428
NM_000127.3(EXT1):c.582T>C (p.Asn194=)
NM_000127.3(EXT1):c.615G>A (p.Glu205=)
NM_000127.3(EXT1):c.648G>A (p.Leu216=) rs2130042468
NM_000127.3(EXT1):c.663C>T (p.Ile221=)
NM_000127.3(EXT1):c.678C>T (p.Phe226=)
NM_000127.3(EXT1):c.726C>T (p.Pro242=)
NM_000127.3(EXT1):c.765C>G (p.Thr255=)
NM_000127.3(EXT1):c.774T>A (p.Pro258=)
NM_000127.3(EXT1):c.783G>A (p.Lys261=)
NM_000127.3(EXT1):c.792G>A (p.Leu264=)
NM_000127.3(EXT1):c.844G>A (p.Ala282Thr)
NM_000127.3(EXT1):c.855C>T (p.His285=)
NM_000127.3(EXT1):c.962+17del
NM_000127.3(EXT1):c.962+18C>T
NM_000127.3(EXT1):c.962+7G>A rs778490814
NM_000127.3(EXT1):c.963-13C>T
NM_000127.3(EXT1):c.963-14T>G
NM_000127.3(EXT1):c.963-15C>T
NM_000127.3(EXT1):c.963-7dup rs2129791582
NM_000127.3(EXT1):c.969T>C (p.Asp323=)
NM_000127.3(EXT1):c.96G>A (p.Arg32=)
NM_000127.3(EXT1):c.978A>G (p.Glu326=) rs2129791475

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