ClinVar Miner

List of variants studied for breast cancer by Faculty of Pharmacy, Medical University of Gdansk

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_052997.3(ANKRD30A):c.3939_3940del (p.Glu1314fs) rs763931520 0.00278
NM_003629.4(PIK3R3):c.797G>A (p.Arg266His) rs765790132 0.00001
NM_007294.4(BRCA1):c.1510C>T (p.Arg504Cys) rs80357445 0.00001
NM_001080413.3(NOBOX):c.138C>A (p.Tyr46Ter) rs370043070
NM_001127208.3(TET2):c.2131G>C (p.Glu711Gln) rs869025296
NM_006311.4(NCOR1):c.4707del (p.Pro1570fs) rs869025295
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr) rs786203973
NM_024675.4(PALB2):c.1498T>C (p.Ser500Pro) rs869025294

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