ClinVar Miner

List of variants reported as likely benign for connective tissue neoplasm by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 106
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HGVS dbSNP
NM_000127.2(EXT1):c.-642G>A rs534171475
NM_000127.2(EXT1):c.1066G>A (p.Val356Ile) rs61753260
NM_000127.2(EXT1):c.1360G>A (p.Val454Ile) rs201504622
NM_000127.2(EXT1):c.1536+7G>A rs200128437
NM_000127.2(EXT1):c.214G>A (p.Glu72Lys) rs150818931
NM_000127.3(EXT1):c.1659C>T (p.Tyr553=)
NM_000127.3(EXT1):c.1749G>C (p.Gln583His)
NM_000127.3(EXT1):c.1781C>G (p.Ala594Gly)
NM_000127.3(EXT1):c.66T>C (p.Tyr22=)
NM_000388.4(CASR):c.-378del rs537119483
NM_000388.4(CASR):c.1008G>C (p.Lys336Asn) rs548403340
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys) rs76327999
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092
NM_000388.4(CASR):c.762T>C (p.His254=) rs76438850
NM_000388.4(CASR):c.915C>A (p.Ile305=) rs200528343
NM_000401.3(EXT2):c.*101G>C rs117755165
NM_000401.3(EXT2):c.*129C>G rs141864253
NM_000401.3(EXT2):c.*139C>G rs191451519
NM_000401.3(EXT2):c.*56G>A rs77554103
NM_000401.3(EXT2):c.107C>T (p.Ala36Val) rs201185639
NM_000401.3(EXT2):c.110C>T (p.Ser37Leu) rs527624522
NM_000401.3(EXT2):c.1116T>C (p.Cys372=) rs11828047
NM_000401.3(EXT2):c.1121C>T (p.Pro374Leu) rs141035971
NM_000401.3(EXT2):c.1122G>A (p.Pro374=) rs757323768
NM_000401.3(EXT2):c.1186G>A (p.Val396Met) rs138943091
NM_000401.3(EXT2):c.1277G>A (p.Arg426Gln) rs138187791
NM_000401.3(EXT2):c.1307T>C (p.Ile436Thr) rs530523884
NM_000401.3(EXT2):c.1859C>T (p.Thr620Met) rs138495222
NM_000401.3(EXT2):c.1860G>A (p.Thr620=) rs16937864
NM_000401.3(EXT2):c.1905+11G>A rs372517964
NM_000401.3(EXT2):c.2015C>T (p.Thr672Met) rs138722406
NM_000401.3(EXT2):c.2034+11C>G rs764143899
NM_000401.3(EXT2):c.223A>G (p.Met75Val) rs4755779
NM_000401.3(EXT2):c.344A>C (p.Asp115Ala) rs534539796
NM_000401.3(EXT2):c.383G>A (p.Arg128His) rs143703574
NM_000401.3(EXT2):c.809C>T (p.Ser270Leu) rs139525250
NM_000401.3(EXT2):c.948C>T (p.Leu316=) rs749093709
NM_000401.3(EXT2):c.995G>A (p.Arg332His) rs76901081
NM_000460.4(THPO):c.*18G>A rs180680111
NM_000460.4(THPO):c.229-17_229-14dup rs55827759
NM_000460.4(THPO):c.24C>T (p.Leu8=) rs373542698
NM_000460.4(THPO):c.310C>A (p.Pro104Thr)
NM_000460.4(THPO):c.356G>A (p.Arg119His) rs143216798
NM_000460.4(THPO):c.852G>A (p.Leu284=)
NM_002451.3(MTAP):c.-117T>C rs545625466
NM_002451.4(MTAP):c.*1105del rs200216058
NM_002451.4(MTAP):c.788G>T (p.Trp263Leu)
NM_003977.4(AIP):c.145G>A (p.Val49Met) rs1063385
NM_003977.4(AIP):c.47G>A (p.Arg16His) rs145047094
NM_003977.4(AIP):c.573C>T (p.Arg191=) rs781545373
NM_003977.4(AIP):c.591G>A (p.Glu197=) rs202006716
NM_003977.4(AIP):c.609C>T (p.Tyr203=) rs146317385
NM_003977.4(AIP):c.733G>A (p.Glu245Lys) rs150645662
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567
NM_003977.4(AIP):c.896C>T (p.Ala299Val) rs148986773
NM_003977.4(AIP):c.906G>A (p.Val302=) rs142912418
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_005373.2(MPL):c.*1054G>A rs139528456
NM_005373.2(MPL):c.*1116G>A rs144177827
NM_005373.2(MPL):c.*1126A>G rs543250497
NM_005373.2(MPL):c.*1180G>A rs117166528
NM_005373.2(MPL):c.*1486T>C rs149940158
NM_005373.2(MPL):c.*1506G>A rs115780311
NM_005373.2(MPL):c.*1603A>C rs142139493
NM_005373.2(MPL):c.*1674A>T rs536844021
NM_005373.2(MPL):c.*364C>T rs138892634
NM_005373.2(MPL):c.*400C>T rs558390922
NM_005373.2(MPL):c.*573G>A rs192016153
NM_005373.2(MPL):c.*662C>T rs1763698
NM_005373.2(MPL):c.*709C>T rs185654501
NM_005373.2(MPL):c.*748C>T rs190071085
NM_005373.2(MPL):c.*94C>A rs77858532
NM_005373.2(MPL):c.1003G>A (p.Glu335Lys) rs139770726
NM_005373.2(MPL):c.1102G>T (p.Val368Leu) rs149810307
NM_005373.2(MPL):c.1120A>G (p.Thr374Ala) rs190983971
NM_005373.2(MPL):c.117G>T (p.Lys39Asn) rs17292650
NM_005373.2(MPL):c.1565+5C>T rs41269541
NM_005373.2(MPL):c.1570C>T (p.Leu524=) rs146372205
NM_005373.2(MPL):c.1609C>T (p.Arg537Trp) rs148784027
NM_005373.2(MPL):c.1653+3G>A rs149625825
NM_005373.2(MPL):c.1654-10T>A rs200460456
NM_005373.2(MPL):c.1666G>T (p.Val556Phe) rs150004498
NM_005373.2(MPL):c.1794C>T (p.Cys598=) rs143457144
NM_005373.2(MPL):c.210G>A (p.Pro70=) rs6086
NM_005373.2(MPL):c.543T>C (p.Gly181=) rs17572791
NM_005373.2(MPL):c.690+11C>T rs144769485
NM_005373.2(MPL):c.854-3T>C rs201514537
NM_005373.2(MPL):c.962G>A (p.Arg321Gln) rs149265851
NM_058172.6(ANTXR2):c.*1563A>G
NM_058172.6(ANTXR2):c.*2245G>A
NM_058172.6(ANTXR2):c.*2303A>C
NM_058172.6(ANTXR2):c.*242A>G
NM_058172.6(ANTXR2):c.*3649T>A
NM_058172.6(ANTXR2):c.*3902C>T
NM_058172.6(ANTXR2):c.*4630A>T
NM_058172.6(ANTXR2):c.*4856C>T
NM_058172.6(ANTXR2):c.*5223G>T
NM_058172.6(ANTXR2):c.*5425G>A
NM_058172.6(ANTXR2):c.*947T>C
NM_058172.6(ANTXR2):c.1179+3T>C
NM_058172.6(ANTXR2):c.1360G>A (p.Ala454Thr)
NM_058172.6(ANTXR2):c.324T>C (p.Asp108=) rs184413338
NM_058172.6(ANTXR2):c.916G>C (p.Gly306Arg) rs202143525
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln)

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