ClinVar Miner

List of variants studied for breast disorder by Laboratory of Translational Genomics, National Cancer Institute

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001002295.2(GATA3):c.1032C>T (p.Leu344=) rs104886017 0.00001
NM_005228.5(EGFR):c.2602G>A (p.Glu868Lys) rs104886013 0.00001
NM_000546.6(TP53):c.386C>T (p.Ala129Val) rs137852792
NM_000546.6(TP53):c.414del (p.Lys139fs) rs137852794
NM_001002295.1:c.1482-5C>T
NM_004448.4(ERBB2):c.2494-3C>T rs104886007
NM_004448.4(ERBB2):c.2520G>A (p.Arg840=) rs104886011
NM_004448.4(ERBB2):c.2535C>T (p.Asp845=) rs137852788
NM_004448.4(ERBB2):c.2568C>T (p.Pro856=) rs104886009
NM_004448.4(ERBB2):c.3146G>A (p.Ser1049Asn) rs104886025
NM_006218.4(PIK3CA):c.1571G>A (p.Arg524Lys) rs104885999
NM_006218.4(PIK3CA):c.1664+18G>A rs104886001
NM_006218.4(PIK3CA):c.1664G>A (p.Arg555Lys) rs104886000
NM_006218.4(PIK3CA):c.1769G>A (p.Trp590Ter) rs104886021
NM_033360.4(KRAS):c.176C>T (p.Ala59Val) rs104886029

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