ClinVar Miner

List of variants studied for cerebellar hypoplasia-tapetoretinal degeneration syndrome by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NC_000023.11:g.41506506_41542250del
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.584A>G (p.His195Arg) rs1596489887
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) rs770566897
NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr) rs121908681

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