ClinVar Miner

List of variants reported as pathogenic for connective tissue neoplasm by Baylor Genetics

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000038.6(APC):c.2413C>T (p.Arg805Ter) rs587779783
NM_000038.6(APC):c.3692_3693insA (p.His1232fs)
NM_000127.2(EXT1):c.963-2A>G rs1554580162
NM_000267.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_002609.4(PDGFRB):c.1751C>G (p.Pro584Arg) rs863224946
NM_004343.4(CALR):c.1154_1155insTTGTC (p.Lys385fs)
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_005373.3(MPL):c.79+2T>A rs146249964
NM_022455.4(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
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

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