ClinVar Miner

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

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs) rs312262693 0.00004
NM_000038.6(APC):c.2413C>T (p.Arg805Ter) rs587779783
NM_000038.6(APC):c.3692_3693insA (p.His1232fs) rs1765495276
NM_000368.5(TSC1):c.1715_1722dup (p.Ser575fs) rs1588309702
NM_000368.5(TSC1):c.2329del (p.Ser777fs) rs397514780
NM_003072.5(SMARCA4):c.2932C>T (p.Arg978Ter) rs1064796254
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter) rs267607070
NM_003073.5(SMARCB1):c.1062_1063del (p.Glu354fs) rs2030790572
NM_058172.6(ANTXR2):c.1305del (p.Thr436fs) rs797045028
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401

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