List of variants in gene PALB2 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)	rs180177110	0.00002
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)	rs180177100	0.00001
GRCh37/hg19 16p12.2(chr16:23619185-23619333)x1
GRCh37/hg19 16p12.2(chr16:23640525-23641790)x1
NM_024675.4(PALB2):c.1424dup (p.Arg476fs)	rs1555461294
NM_024675.4(PALB2):c.1543A>T (p.Lys515Ter)
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)	rs180177143
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter)	rs1555461875
NM_024675.4(PALB2):c.2296_2297del (p.Val767fs)	rs876658170
NM_024675.4(PALB2):c.2457del (p.Glu820fs)	rs1966856088
NM_024675.4(PALB2):c.2652_2653delinsT (p.Glu884fs)
NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter)	rs1555457867
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs)	rs587776426
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)	rs587776428
NM_024675.4(PALB2):c.48+1G>T	rs515726118
NM_024675.4(PALB2):c.487_488del (p.Val163fs)	rs745533713
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)	rs515726123
NM_024675.4(PALB2):c.620dup (p.Asp208fs)
NM_024675.4(PALB2):c.658del (p.Ser220fs)	rs876659328
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)	rs180177092

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