ClinVar Miner

List of variants studied for connective tissue neoplasm by McDonnell Genome Institute,Washington University in St. Louis

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NC_012920.1:m.14372C>A rs1556424431
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000546.5(TP53):c.636del (p.Arg213fs) rs864309495
NM_001099.5(ACP3):c.849CAT[1] (p.Ile284del) rs864309497
NM_003048.6(SLC9A2):c.2173del (p.Gln725fs) rs864309496
NM_015885.4(PCF11):c.3225del (p.Phe1075fs) rs864309498
NM_022904.3(RASAL3):c.-5C>G rs76267899
NM_024535.5(CORO7):c.2772+50C>T rs1555468179
NM_153487.4(MDGA1):c.2674T>G (p.Phe892Val) rs864309493

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