ClinVar Miner

List of variants in gene PALB2 reported as pathogenic for Fanconi anemia complementation group N

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) rs142132127 0.00003
NM_024675.4(PALB2):c.212-2A>G rs730881879 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) rs180177110 0.00002
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) rs180177135 0.00002
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter) rs878855122 0.00002
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997 0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter) rs180177112 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_024675.4(PALB2):c.395del (p.Val132fs) rs180177085 0.00001
NC_000016.10:g.(23614092_23621361)_(23641357_?)del
NG_007406.1:g.(5249_8228)_(17155_19960)del
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs) rs587776410
NM_024675.4(PALB2):c.1188C>A (p.Cys396Ter) rs587780817
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs) rs515726073
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter) rs730881876
NM_024675.4(PALB2):c.2267_2283dup (p.His762fs) rs755471995
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter) rs1060502748
NM_024675.4(PALB2):c.2393_2394insCT (p.Thr799fs) rs180177113
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs) rs747148023
NM_024675.4(PALB2):c.2488del (p.Glu830fs) rs876658813
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) rs180177126
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.4(PALB2):c.3114-16_3114-11del rs2142300433
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3294_3298del (p.Lys1098fs) rs180177134
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092

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