ClinVar Miner

List of variants studied for breast disorder by University of Washington Department of Laboratory Medicine, University of Washington

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser) rs587781976 0.00008
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu) rs759031349 0.00006
NM_000546.6(TP53):c.917G>A (p.Arg306Gln) rs1048095040

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