ClinVar Miner

List of variants in gene PALB2 reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) rs180177110 0.00002
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter) rs878855122 0.00002
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997 0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) rs180177083 0.00001
NM_024675.4(PALB2):c.2559C>T (p.Gly853=) rs180177115 0.00001
NM_024675.4(PALB2):c.1046del (p.Asn349fs) rs1555461484
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter) rs786203714
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.2032del (p.Leu678fs) rs730881866
NM_024675.4(PALB2):c.211+1G>T rs1555462026
NM_024675.4(PALB2):c.212-2A>C rs730881879
NM_024675.4(PALB2):c.2470dup (p.Cys824fs) rs863224521
NM_024675.4(PALB2):c.2834+1G>A rs587776419
NM_024675.4(PALB2):c.293dup (p.Thr99fs) rs1967057228
NM_024675.4(PALB2):c.3032A>T (p.Glu1011Val) rs1597079845
NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter) rs1555457867
NM_024675.4(PALB2):c.487_488del (p.Val163fs) rs745533713
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.658del (p.Ser220fs) rs876659328
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092

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