ClinVar Miner

List of variants reported as pathogenic for Pontocerebellar hypoplasia type 2D by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr)	rs267607035	0.00001
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys)	rs267607036
NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val)	rs773876739

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