ClinVar Miner

List of variants in gene SEPSECS studied for Pontoneocerebellar hypoplasia

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_016955.4(SEPSECS):c.*371_*372del rs143987218 0.01024
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) rs267607035 0.00001
NM_016955.4(SEPSECS):c.*236_*237insTTT rs140928773
NM_016955.4(SEPSECS):c.*254_*257del rs577008196
NM_016955.4(SEPSECS):c.*3402AAT[1] rs886059339
NM_016955.4(SEPSECS):c.269+9_269+12del rs748765764

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