ClinVar Miner

List of variants studied for DNA repair disease by PALB2 database

Included ClinVar conditions (95):
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ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_024675.3(PALB2):c.-200-?_3113+?del
NM_024675.3(PALB2):c.1676_1677delAAinsG (p.Gln559Argfs) rs515726073
NM_024675.3(PALB2):c.2393_2394insCT (p.Thr799Leufs) rs180177113
NM_024675.3(PALB2):c.2521delA (p.Thr841Glnfs) rs180177116
NM_024675.3(PALB2):c.3116delA (p.Asn1039Ilefs) rs180177133
NM_024675.3(PALB2):c.3323delA (p.Tyr1108Serfs) rs180177135
NM_024675.3(PALB2):c.3350+4A>G rs180177136
NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998
NM_024675.3(PALB2):c.395delT (p.Val132Alafs) rs180177085
NM_024675.3(PALB2):c.757_758delCT (p.Leu253Ilefs) rs180177092

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