ClinVar Miner

List of variants studied for connective tissue neoplasm by Baylor Genetics

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP
NM_000038.6(APC):c.2413C>T (p.Arg805Ter) rs587779783
NM_000038.6(APC):c.245T>C (p.Phe82Ser) rs1179254201
NM_000038.6(APC):c.3689A>G (p.Gln1230Arg) rs764706774
NM_000038.6(APC):c.3692_3693insA (p.His1232fs)
NM_000127.2(EXT1):c.963-2A>G rs1554580162
NM_000127.3(EXT1):c.197T>C (p.Val66Ala)
NM_000127.3(EXT1):c.873C>G (p.Asp291Glu)
NM_000267.3(NF1):c.2495A>G (p.Asp832Gly) rs1060500283
NM_000267.3(NF1):c.8159C>T (p.Thr2720Met) rs144178015
NM_000267.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_000388.4(CASR):c.2570T>A (p.Ile857Asn)
NM_000435.3(NOTCH3):c.214G>A (p.Val72Met)
NM_000435.3(NOTCH3):c.5114+11T>G
NM_000460.4(THPO):c.518T>C (p.Val173Ala) rs768776540
NM_001195626.3(MLLT10):c.1226G>C (p.Gly409Ala)
NM_001375462.1(LPP):c.451T>C (p.Ser151Pro)
NM_001754.4(RUNX1):c.1269C>T (p.Arg423=) rs544247912
NM_001754.4(RUNX1):c.182C>T (p.Pro61Leu) rs769213771
NM_002609.4(PDGFRB):c.1751C>G (p.Pro584Arg) rs863224946
NM_003977.4(AIP):c.692C>T (p.Thr231Met) rs532170807
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567
NM_004343.4(CALR):c.1154_1155insTTGTC (p.Lys385fs)
NM_004364.4(CEBPA):c.827A>G (p.Lys276Arg) rs201061067
NM_004972.4(JAK2):c.1641+6T>C
NM_004972.4(JAK2):c.2175A>G (p.Glu725=)
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_005188.3(CBL):c.1112A>C (p.Tyr371Ser) rs387906666
NM_005188.4(CBL):c.1228-2A>G rs727504426
NM_005373.3(MPL):c.1169G>A (p.Arg390His)
NM_005373.3(MPL):c.79+2T>A rs146249964
NM_022455.4(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
NM_023110.3(FGFR1):c.166C>T (p.Arg56Trp)
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe) rs768223019
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) rs1260404537
NM_032638.5(GATA2):c.553C>T (p.Pro185Ser)
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs) rs312262693
NM_058172.6(ANTXR2):c.1305del (p.Thr436fs) rs797045028
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401
NM_058172.6(ANTXR2):c.1361C>T (p.Ala454Val)
NM_058172.6(ANTXR2):c.241T>C (p.Ser81Pro) rs797045029
NM_133171.5(ELMO2):c.1802-1G>C rs886037918
NM_198253.3(TERT):c.1331A>G (p.Asp444Gly) rs878855299
NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly)
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln)
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln)
NM_207122.2(EXT2):c.973C>T (p.Arg325Trp)
NM_207122.2(EXT2):c.974G>A (p.Arg325Gln)

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