ClinVar Miner

List of variants studied for connective tissue neoplasm by GeneReviews

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_003977.4(AIP):c.47G>A (p.Arg16His) rs145047094 0.00197
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_003977.4(AIP):c.896C>T (p.Ala299Val) rs148986773 0.00065
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567 0.00055
NM_003977.4(AIP):c.145G>A (p.Val49Met) rs1063385 0.00006
NM_003977.4(AIP):c.135C>T (p.Asp45=) rs181969066 0.00004
NM_003977.4(AIP):c.584T>C (p.Val195Ala) rs267606561 0.00004
NM_003977.4(AIP):c.-5G>C rs267606562 0.00003
NM_003977.4(AIP):c.591G>A (p.Glu197=) rs202006716 0.00003
NM_003977.4(AIP):c.965C>T (p.Ala322Val) rs267606586 0.00003
NM_003977.4(AIP):c.383G>A (p.Arg128His) rs267606550 0.00002
NM_003977.4(AIP):c.174G>C (p.Lys58Asn) rs267606539 0.00001
NM_003977.4(AIP):c.721A>G (p.Lys241Glu) rs267606573 0.00001
NM_003977.4(AIP):c.783C>T (p.Tyr261=) rs267606576 0.00001
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_004985.5(KRAS):c.437C>T (p.Ala146Val) rs1057519725 0.00001
NM_004985.5(KRAS):c.57G>C (p.Leu19Phe) rs121913538 0.00001
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_003977.2(AIP):c.(?_1)_(*_?)del
NM_003977.2(AIP):c.-1212_279+578del
NM_003977.3(AIP):c.74_81delTCCCGGACins7
NM_003977.3(AIP):c.[-125-145_-125-144delCGinsAA];[-125-95G>A]
NM_003977.3(AIP):c.[878_879delAGinsGT];[880_891delCTGGACCCAGCC]
NM_003977.4(AIP):c.100-1025_279+357del
NM_003977.4(AIP):c.140_163del (p.Gly47_Arg54del) rs267606537
NM_003977.4(AIP):c.166C>A (p.Arg56Ser) rs267606538
NM_003977.4(AIP):c.241C>T (p.Arg81Ter) rs267606541
NM_003977.4(AIP):c.245_249del (p.Glu82fs) rs267606542
NM_003977.4(AIP):c.249G>T (p.Gly83=) rs104895072
NM_003977.4(AIP):c.250G>A (p.Glu84Lys) rs267606543
NM_003977.4(AIP):c.280-1G>A rs267606544
NM_003977.4(AIP):c.286_287del (p.Val96fs) rs267606545
NM_003977.4(AIP):c.2T>C (p.Met1Thr) rs267606546
NM_003977.4(AIP):c.308A>G (p.Lys103Arg) rs267606548
NM_003977.4(AIP):c.350del (p.Gly117fs) rs267606549
NM_003977.4(AIP):c.3_4insC (p.Ala2fs) rs267606547
NM_003977.4(AIP):c.404del (p.His135fs) rs267606551
NM_003977.4(AIP):c.424C>T (p.Gln142Ter) rs267606552
NM_003977.4(AIP):c.429G>A (p.Gln143=) rs267606553
NM_003977.4(AIP):c.468+16G>T rs267607273
NM_003977.4(AIP):c.468+1G>A rs267606554
NM_003977.4(AIP):c.469-1G>A rs267606555
NM_003977.4(AIP):c.469-2A>G rs267606556
NM_003977.4(AIP):c.490C>T (p.Gln164Ter) rs104895073
NM_003977.4(AIP):c.500del (p.Pro167fs) rs267606557
NM_003977.4(AIP):c.521_525del (p.Glu174fs) rs267606558
NM_003977.4(AIP):c.543del (p.Ile182fs) rs267606559
NM_003977.4(AIP):c.550C>T (p.Gln184Ter) rs267606560
NM_003977.4(AIP):c.601A>T (p.Lys201Ter) rs267606563
NM_003977.4(AIP):c.646G>T (p.Glu216Ter) rs267606565
NM_003977.4(AIP):c.649C>T (p.Gln217Ter) rs267606566
NM_003977.4(AIP):c.64C>T (p.Arg22Ter) rs121908357
NM_003977.4(AIP):c.662dup (p.Pro221_Glu222insTer) rs104895075
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del) rs267606567
NM_003977.4(AIP):c.70G>T (p.Glu24Ter) rs267606568
NM_003977.4(AIP):c.713G>A (p.Cys238Tyr) rs267606569
NM_003977.4(AIP):c.714C>T (p.Cys238=) rs267606570
NM_003977.4(AIP):c.715C>T (p.Gln239Ter) rs267606571
NM_003977.4(AIP):c.721A>T (p.Lys241Ter) rs267606573
NM_003977.4(AIP):c.739TAC[1] (p.Tyr248del) rs267606574
NM_003977.4(AIP):c.769A>G (p.Ile257Val) rs267606575
NM_003977.4(AIP):c.803A>G (p.Tyr268Cys) rs267606577
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) rs121908356
NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup) rs267606578
NM_003977.4(AIP):c.811C>T (p.Arg271Trp) rs267606579
NM_003977.4(AIP):c.824dup (p.His275fs) rs267606580
NM_003977.4(AIP):c.829G>C (p.Ala277Pro) rs267606581
NM_003977.4(AIP):c.854_857del (p.Gln285fs) rs267606582
NM_003977.4(AIP):c.919dup (p.Arg307fs) rs267606589
NM_003977.4(AIP):c.987C>T (p.Ser329=) rs267606587
NM_004364.5(CEBPA):c.141del (p.Ala48fs) rs137852730
NM_004364.5(CEBPA):c.147_165del (p.Glu50fs) rs2145264004
NM_004364.5(CEBPA):c.158del (p.Gly53fs) rs2145264074
NM_004364.5(CEBPA):c.189del (p.Asp63fs) rs2145263853
NM_004364.5(CEBPA):c.314_315insT (p.Phe106fs) rs2145263088
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter) rs1388478228
NM_004364.5(CEBPA):c.68del (p.Pro23fs) rs137852728
NM_004364.5(CEBPA):c.68dup (p.His24fs) rs137852728
NM_004364.5(CEBPA):c.932A>C (p.Gln311Pro) rs2145258913
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) rs121913527
NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys) rs137853863
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter) rs104894903
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val) rs104894909
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) rs104894901
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu) rs1556379508
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp) rs73637412

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