List of variants studied for pontocerebellar hypoplasia type 8 by Baylor Genetics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_002768.5(CHMP1A):c.51G>A (p.Lys17=)	rs187184327	0.00114
NM_002768.5(CHMP1A):c.130T>A (p.Cys44Ser)	rs372234497	0.00029
NM_002768.5(CHMP1A):c.204C>T (p.Arg68=)	rs199628110	0.00012
NM_002768.5(CHMP1A):c.*93G>A	rs542215121	0.00001
NM_002768.5(CHMP1A):c.106-3C>T	rs765715151
NM_002768.5(CHMP1A):c.277A>G (p.Thr93Ala)	rs953400825
NM_002768.5(CHMP1A):c.28-2A>G

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