ClinVar Miner

List of variants studied for Pontocerebellar hypoplasia type 2D by Fulgent Genetics, Fulgent Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter) rs745870736 0.00005
NM_016955.4(SEPSECS):c.1390G>T (p.Glu464Ter) rs747732980 0.00002
NM_016955.4(SEPSECS):c.389-1G>A rs754373273 0.00002
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.1222C>T (p.Leu408Phe) rs752082832
NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter) rs1309003036
NM_016955.4(SEPSECS):c.467G>A (p.Arg156Gln) rs776438003
NM_016955.5(SEPSECS):c.808dup rs776969714

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