ClinVar Miner

List of variants studied for connective tissue neoplasm by Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000127.2(EXT1):c.1469del (p.Leu490fs) rs886039356
NM_001290003.1(THPO):c.98C>T (p.Pro33Leu) rs1208732776
NM_003483.4(HMGA2):c.283-2A>G rs1592471112
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu) rs1602937895
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401

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