ClinVar Miner

List of variants studied for pontocerebellar hypoplasia type 6 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_020320.5(RARS2):c.1024A>G (p.Met342Val) rs387907048 0.00001
NM_020320.5(RARS2):c.-2A>G rs201150141
NM_020320.5(RARS2):c.110+5A>G rs63749985

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