ClinVar Miner

List of variants studied for dysgerminoma by Donald Williams Parsons Laboratory, Baylor College of Medicine

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000222.3(KIT):c.2446G>C (p.Asp816His) rs121913506
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.3(KIT):c.2851_2852dup (p.Val951_Asp952insTer) rs1553893816
NM_003011.4(SET):c.777dup (p.Asp260fs) rs1554777032
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888

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