ClinVar Miner

List of variants studied for Familial cancer of breast by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) rs180177110 0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.4373del (p.Gly1458fs) rs587781653
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_007194.4(CHEK2):c.1134del (p.Ser379fs) rs1569114113
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.494del (p.Gly165fs) rs1569157733
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.971del (p.Cys324fs) rs1569121172
NM_024675.4(PALB2):c.1032_1033dup (p.Leu345fs) rs1555461488
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.228_229del (p.Ile76fs) rs1555461870
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs) rs747148023
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2748+1G>T rs753153576
NM_024675.4(PALB2):c.3202-1G>A rs515726111
NM_024675.4(PALB2):c.347T>A (p.Leu116Ter) rs876660465

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