List of variants reported as benign for Pontocerebellar hypoplasia type 2D by Illumina Laboratory Services, Illumina

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_016955.4(SEPSECS):c.*807A>G	rs13109061	0.38145
NM_016955.4(SEPSECS):c.1356G>C (p.Lys452Asn)	rs2302566	0.07763
NM_016955.4(SEPSECS):c.1211+7A>G	rs17408685	0.04557
NM_016955.4(SEPSECS):c.*2966A>G	rs115116065	0.01758
NM_016955.4(SEPSECS):c.*3848C>T	rs111294195	0.01439
NM_016955.4(SEPSECS):c.*681A>C	rs76926200	0.01167
NM_016955.4(SEPSECS):c.1120+12T>C	rs4697552	0.00916
NM_016955.4(SEPSECS):c.1394G>A (p.Arg465Gln)	rs115959591	0.00697
NM_016955.4(SEPSECS):c.*3775A>G	rs115004931	0.00670
NM_016955.4(SEPSECS):c.935-5T>G	rs2302564	0.00644
NM_016955.4(SEPSECS):c.*2123A>G	rs142960382	0.00625
NM_016955.4(SEPSECS):c.*454C>T	rs77936887	0.00552
NM_016955.4(SEPSECS):c.*2840T>C	rs144070806	0.00524
NM_016955.4(SEPSECS):c.*223G>A	rs146860744	0.00051
NM_016955.4(SEPSECS):c.1128A>G (p.Thr376=)	rs368182922	0.00026

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