ClinVar Miner

List of variants reported as uncertain significance for Familial cancer of breast by ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser) rs200048921 0.00006
NM_000051.4(ATM):c.331+7G>A rs1184757004 0.00001
NM_000051.4(ATM):c.1262C>T (p.Ser421Leu)
NM_000051.4(ATM):c.1905_1910del (p.His635_His636del) rs587781635
NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys) rs587781815
NM_000051.4(ATM):c.5556_5557delinsGA (p.Asp1853Asn) rs2083595502
NM_000051.4(ATM):c.6530A>C (p.Gln2177Pro) rs1060501573
NM_000051.4(ATM):c.6880G>A (p.Glu2294Lys)
NM_000051.4(ATM):c.7919C>G (p.Thr2640Ser) rs4988125
NM_024675.4(PALB2):c.104T>C (p.Leu35Pro) rs141047069
NM_024675.4(PALB2):c.1684+1G>A rs1555461148
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp) rs587782151
NM_024675.4(PALB2):c.2734T>G (p.Trp912Gly)
NM_024675.4(PALB2):c.2831T>A (p.Ile944Asn) rs201817103
NM_024675.4(PALB2):c.3049G>A (p.Ala1017Thr) rs759795184
NM_024675.4(PALB2):c.3089C>T (p.Thr1030Ile) rs876660109
NM_024675.4(PALB2):c.338C>T (p.Pro113Leu) rs374425261
NM_024675.4(PALB2):c.3512del (p.Leu1171fs)
NM_024675.4(PALB2):c.3543del (p.Phe1181fs) rs1567204928
NM_024675.4(PALB2):c.49-2A>T rs786203245
NM_024675.4(PALB2):c.82T>A (p.Tyr28Asn) rs1060502762
NM_024675.4(PALB2):c.871G>A (p.Ala291Thr) rs878855124

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