ClinVar Miner

List of variants studied for Pontocerebellar hypoplasia type 1A by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_003384.3(VRK1):c.398G>A (p.Arg133His) rs758978677 0.00001
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys) rs1064794609

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