ClinVar Miner

List of variants reported as benign for breast disorder by Mendelics

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_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_024675.4(PALB2):c.3351-48G>T rs201335445 0.00170
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_000465.4(BARD1):c.1203T>C (p.Ser401=) rs370553043 0.00014
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984 0.00009
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_000465.4(BARD1):c.*119G>A rs1378645134
NM_000465.4(BARD1):c.*122_*123del rs1310441861
NM_000465.4(BARD1):c.*136_*138dup rs113789798
NM_000465.4(BARD1):c.*137_*138dup rs113789798
NM_000465.4(BARD1):c.*138del rs113789798
NM_000465.4(BARD1):c.216-13_216-12del rs1491038786
NM_024675.4(PALB2):c.3351-48del rs140806991

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