List of variants in gene PALB2 studied for PALB2-Related Disorders

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_024675.4(PALB2):c.2743G>A (p.Ala915Thr)	rs374736398	0.00003
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly)	rs369132015	0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)	rs180177132	0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)	rs587776527	0.00002
NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile)	rs373298267	0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)	rs118203998	0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs)	rs515726126	0.00001
NM_024675.4(PALB2):c.1266del (p.Lys422_Val423insTer)	rs1555461366
NM_024675.4(PALB2):c.1553C>G (p.Ser518Ter)	rs1060502805
NM_024675.4(PALB2):c.1847A>G (p.Asp616Gly)	rs876660063
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs)	rs730881869
NM_024675.4(PALB2):c.2749G>A (p.Val917Ile)	rs753767237
NM_024675.4(PALB2):c.3201+1G>C	rs587776423
NM_024675.4(PALB2):c.3350+4A>G	rs180177136
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)	rs587776428
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)	rs515726123

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