ClinVar Miner

List of variants reported as benign for connective tissue neoplasm by Invitae

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 107
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HGVS dbSNP
NM_000127.2(EXT1):c.1065C>T (p.Cys355=) rs11546829
NM_000127.2(EXT1):c.114A>G (p.Glu38=) rs17506447
NM_000127.2(EXT1):c.117A>G (p.Glu39=) rs78429222
NM_000127.2(EXT1):c.1431C>T (p.Pro477=) rs17439693
NM_000127.2(EXT1):c.1536+7G>A rs200128437
NM_000127.2(EXT1):c.1761G>A (p.Glu587=) rs7837891
NM_000127.2(EXT1):c.1782G>A (p.Ala594=) rs61753261
NM_000127.2(EXT1):c.1959G>A (p.Glu653=) rs142710059
NM_000127.2(EXT1):c.962+8_962+11del rs138812713
NM_000127.3(EXT1):c.1057-12dup
NM_000127.3(EXT1):c.1117A>G (p.Asn373Asp) rs142122090
NM_000127.3(EXT1):c.1161A>G (p.Leu387=) rs200256697
NM_000127.3(EXT1):c.1503C>G (p.Leu501=) rs146108006
NM_000127.3(EXT1):c.2100G>A (p.Gln700=)
NM_000127.3(EXT1):c.741G>A (p.Glu247=) rs148473091
NM_000127.3(EXT1):c.99C>T (p.Ser33=) rs147654656
NM_000401.3(EXT2):c.*56G>A rs77554103
NM_000401.3(EXT2):c.1017C>T (p.Phe339=) rs35436405
NM_000401.3(EXT2):c.1098T>C (p.Asp366=) rs61733300
NM_000401.3(EXT2):c.1116T>C (p.Cys372=) rs11828047
NM_000401.3(EXT2):c.1122G>A (p.Pro374=) rs757323768
NM_000401.3(EXT2):c.1179-18T>A rs11037882
NM_000401.3(EXT2):c.1209G>T (p.Met403Ile) rs34084767
NM_000401.3(EXT2):c.1222A>G (p.Ser408Gly) rs369029338
NM_000401.3(EXT2):c.1277G>A (p.Arg426Gln) rs138187791
NM_000401.3(EXT2):c.127C>A (p.Arg43=) rs4755228
NM_000401.3(EXT2):c.1740C>T (p.Asp580=) rs75987184
NM_000401.3(EXT2):c.1860G>A (p.Thr620=) rs16937864
NM_000401.3(EXT2):c.1905+9del rs372901342
NM_000401.3(EXT2):c.2035-41T>C rs3740878
NM_000401.3(EXT2):c.223A>G (p.Met75Val) rs4755779
NM_000401.3(EXT2):c.359T>G (p.Met120Arg) rs140075817
NM_000401.3(EXT2):c.363C>T (p.His121=) rs35455466
NM_000401.3(EXT2):c.618G>C (p.Ala206=) rs148121594
NM_000401.3(EXT2):c.809C>T (p.Ser270Leu) rs139525250
NM_000401.3(EXT2):c.995G>A (p.Arg332His) rs76901081
NM_002609.4(PDGFRB):c.102C>T (p.Val34=) rs17708515
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) rs2229558
NM_002609.4(PDGFRB):c.1083C>T (p.Ser361=)
NM_002609.4(PDGFRB):c.1108C>T (p.Arg370Cys) rs200684708
NM_002609.4(PDGFRB):c.1119G>A (p.Ser373=) rs200225593
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=) rs2228439
NM_002609.4(PDGFRB):c.1223C>G (p.Ser408Cys) rs200203294
NM_002609.4(PDGFRB):c.12G>A (p.Pro4=) rs138641101
NM_002609.4(PDGFRB):c.1376G>A (p.Arg459His) rs149274963
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met) rs74943037
NM_002609.4(PDGFRB):c.1393C>T (p.Leu465=) rs116171826
NM_002609.4(PDGFRB):c.1437C>T (p.Asn479=) rs371550567
NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys) rs41287110
NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln) rs148974733
NM_002609.4(PDGFRB):c.1539T>C (p.Ala513=) rs150562879
NM_002609.4(PDGFRB):c.1579+10C>T rs571420039
NM_002609.4(PDGFRB):c.1761G>A (p.Leu587=) rs56078873
NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=) rs56072663
NM_002609.4(PDGFRB):c.1872T>C (p.His624=) rs141371542
NM_002609.4(PDGFRB):c.2053C>T (p.Arg685Cys)
NM_002609.4(PDGFRB):c.2164G>T (p.Val722Phe) rs142689325
NM_002609.4(PDGFRB):c.2463C>T (p.Asn821=) rs78336563
NM_002609.4(PDGFRB):c.2502C>T (p.Ile834=) rs143375423
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=) rs41287108
NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=) rs246395
NM_002609.4(PDGFRB):c.2616G>A (p.Pro872=) rs148709288
NM_002609.4(PDGFRB):c.2844G>A (p.Arg948=) rs55647240
NM_002609.4(PDGFRB):c.2889C>T (p.Gly963=) rs139623802
NM_002609.4(PDGFRB):c.3030T>G (p.Thr1010=)
NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=) rs2228440
NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val) rs149417689
NM_002609.4(PDGFRB):c.3137+4A>G rs246391
NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=) rs246388
NM_002609.4(PDGFRB):c.3270G>A (p.Pro1090=) rs183852315
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val) rs114435947
NM_002609.4(PDGFRB):c.365-4G>T rs139448702
NM_002609.4(PDGFRB):c.486G>A (p.Glu162=)
NM_002609.4(PDGFRB):c.590G>A (p.Arg197Lys) rs116642123
NM_002609.4(PDGFRB):c.714C>T (p.Ile238=) rs41287114
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe) rs17110944
NM_002609.4(PDGFRB):c.945C>T (p.Tyr315=) rs56069016
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) rs41287112
NM_004364.4(CEBPA):c.1041G>A (p.Glu347=) rs141430731
NM_004364.4(CEBPA):c.402G>A (p.Ala134=) rs752254340
NM_004364.4(CEBPA):c.561G>C (p.Pro187=) rs538441046
NM_004364.4(CEBPA):c.573C>T (p.His191=) rs192240793
NM_004364.4(CEBPA):c.612G>C (p.Pro204=) rs552634598
NM_004364.4(CEBPA):c.690G>T (p.Thr230=) rs34529039
NM_004364.4(CEBPA):c.693C>G (p.Pro231=) rs550308123
NM_004364.4(CEBPA):c.756G>T (p.Ala252=) rs571969199
NM_004364.5(CEBPA):c.572ACCCGC[4] (p.191HP[4]) rs762459325
NM_005373.2(MPL):c.1063A>G (p.Lys355Glu) rs546510242
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.1309-10C>T rs139486615
NM_005373.2(MPL):c.1565+5C>T rs41269541
NM_005373.2(MPL):c.1653+3G>A rs149625825
NM_005373.2(MPL):c.1654-10T>A rs200460456
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.340G>A (p.Val114Met) rs12731981
NM_005373.2(MPL):c.543T>C (p.Gly181=) rs17572791
NM_005373.2(MPL):c.690A>G (p.Glu230=) rs16830693
NM_005373.2(MPL):c.793C>T (p.Leu265Phe) rs117656396
NM_005373.2(MPL):c.962G>A (p.Arg321Gln) rs149265851
NM_207122.2(EXT2):c.1005A>G (p.Leu335=) rs141977888
NM_207122.2(EXT2):c.1126A>G (p.Ile376Val) rs1465688101
NM_207122.2(EXT2):c.1681G>C (p.Asp561His)
NM_207122.2(EXT2):c.1806+10C>T
NM_207122.2(EXT2):c.1807-51T>C
NM_207122.2(EXT2):c.201G>A (p.Pro67=)

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