ClinVar Miner

List of variants studied for Fanconi anemia complementation group N

Included ClinVar conditions (3):
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Total variants: 37
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HGVS dbSNP
NM_024675.3(PALB2):c.-200-?_3113+?del
NM_024675.3(PALB2):c.106C>T (p.Gln36Ter) rs757369748
NM_024675.3(PALB2):c.1115G>C (p.Ser372Thr) rs786204243
NM_024675.3(PALB2):c.11C>T (p.Pro4Leu) rs45619737
NM_024675.3(PALB2):c.1240C>T (p.Arg414Ter) rs180177100
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.1526G>A (p.Gly509Asp) rs786203176
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.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.2026A>C (p.Ile676Leu) rs761478794
NM_024675.3(PALB2):c.2393_2394insCT (p.Thr799fs) rs180177113
NM_024675.3(PALB2):c.2473A>G (p.Arg825Gly) rs745747228
NM_024675.3(PALB2):c.2521del (p.Thr841fs) rs180177116
NM_024675.3(PALB2):c.2773G>C (p.Val925Leu)
NM_024675.3(PALB2):c.2834+1G>T rs587776419
NM_024675.3(PALB2):c.2869A>C (p.Lys957Gln) rs515726103
NM_024675.3(PALB2):c.2897T>C (p.Ile966Thr) rs587780214
NM_024675.3(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.3(PALB2):c.3116del (p.Asn1039fs) rs180177133
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.3323del (p.Tyr1108fs) rs180177135
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.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.757_758delCT rs180177092
NM_024675.3(PALB2):c.968C>A (p.Ala323Glu) rs730881882
PALB2:c.49-?_2586+?del

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