List of variants reported as benign for pontocerebellar hypoplasia type 6 by Genome-Nilou Lab

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_020320.5(RARS2):c.1512-43T>C	rs9450723	0.61345
NM_020320.5(RARS2):c.452-21A>G	rs4707374	0.61261
NM_020320.5(RARS2):c.451+140G>A	rs34513746	0.32228
NM_020320.5(RARS2):c.111-21C>T	rs9450740	0.24263
NM_020320.5(RARS2):c.1704A>G (p.Lys568=)	rs8802	0.12189
NM_020320.5(RARS2):c.872A>G (p.Lys291Arg)	rs17850652	0.09110
NM_020320.5(RARS2):c.111-19T>G	rs6900057	0.07559
NM_020320.5(RARS2):c.974+90T>C	rs2273131	0.06641
NM_020320.5(RARS2):c.975-43G>A	rs3757371	0.06627
NM_020320.5(RARS2):c.1305+18C>T	rs3734908	0.06626
NM_020320.5(RARS2):c.1237+38G>A	rs13203056	0.04243
NM_020320.5(RARS2):c.703G>A (p.Val235Met)	rs35862137	0.03019

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