ClinVar Miner

List of variants in gene PALB2 reported as pathogenic for DNA repair disease

Included ClinVar conditions (97):
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_024675.3(PALB2):c.106C>T (p.Gln36Ter) rs757369748
NM_024675.3(PALB2):c.1240C>T (p.Arg414Ter) rs180177100
NM_024675.3(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997
NM_024675.3(PALB2):c.1676_1677delinsG (p.Gln559fs) rs515726073
NM_024675.3(PALB2):c.2393_2394insCT (p.Thr799fs) rs180177113
NM_024675.3(PALB2):c.2521del (p.Thr841fs) rs180177116
NM_024675.3(PALB2):c.2834+1G>T rs587776419
NM_024675.3(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.3(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.3(PALB2):c.3323del (p.Tyr1108fs) rs180177135
NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998
NM_024675.3(PALB2):c.395del (p.Val132fs) rs180177085
NM_024675.3(PALB2):c.755_756CT[1] (p.Leu253fs) rs180177092
PALB2:c.49-?_2586+?del

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