ClinVar Miner

List of variants in gene PALB2 reported as uncertain significance for anemia (disease)

Included ClinVar conditions (263):
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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_024675.3(PALB2):c.-149G>A rs886051832
NM_024675.3(PALB2):c.-200-?_3113+?del
NM_024675.3(PALB2):c.1115G>C (p.Ser372Thr) rs786204243
NM_024675.3(PALB2):c.113C>G (p.Ala38Gly) rs371875379
NM_024675.3(PALB2):c.11C>T (p.Pro4Leu) rs45619737
NM_024675.3(PALB2):c.1316G>T (p.Gly439Val) rs537258442
NM_024675.3(PALB2):c.1340C>A (p.Ala447Glu) rs1555461334
NM_024675.3(PALB2):c.1348A>C (p.Asn450His) rs62625274
NM_024675.3(PALB2):c.1379A>G (p.Gln460Arg) rs749494645
NM_024675.3(PALB2):c.1526G>A (p.Gly509Asp) rs786203176
NM_024675.3(PALB2):c.1756G>A (p.Asp586Asn) rs587781954
NM_024675.3(PALB2):c.1759G>A (p.Ala587Thr) rs1060502733
NM_024675.3(PALB2):c.187C>T (p.Leu63Phe) rs730881899
NM_024675.3(PALB2):c.1955G>A (p.Ser652Asn) rs587781818
NM_024675.3(PALB2):c.2026A>C (p.Ile676Leu) rs761478794
NM_024675.3(PALB2):c.2100A>T (p.Ser700=) rs757145884
NM_024675.3(PALB2):c.2379C>T (p.Gly793=) rs377626805
NM_024675.3(PALB2):c.2473A>G (p.Arg825Gly) rs745747228
NM_024675.3(PALB2):c.2507_2509del (p.Val836del) rs587782697
NM_024675.3(PALB2):c.2773G>C (p.Val925Leu) rs180177125
NM_024675.3(PALB2):c.2869A>C (p.Lys957Gln) rs515726103
NM_024675.3(PALB2):c.2896A>G (p.Ile966Val) rs786204248
NM_024675.3(PALB2):c.2897T>C (p.Ile966Thr) rs587780214
NM_024675.3(PALB2):c.3247G>A (p.Glu1083Lys) rs747785029
NM_024675.3(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271
NM_024675.3(PALB2):c.3307G>C (p.Val1103Leu) rs201657283
NM_024675.3(PALB2):c.3350+4A>G rs180177136
NM_024675.3(PALB2):c.3428T>A (p.Leu1143His) rs62625284
NM_024675.3(PALB2):c.3428T>C (p.Leu1143Pro) rs62625284
NM_024675.3(PALB2):c.733G>C (p.Ala245Pro) rs886051831
NM_024675.3(PALB2):c.968C>A (p.Ala323Glu) rs730881882

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