ClinVar Miner

List of variants studied for Perrault syndrome 2 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_012208.4(HARS2):c.1105G>C (p.Gly369Arg) rs61736946 0.00293
NM_012208.4(HARS2):c.324T>C (p.Tyr108=) rs143687204 0.00162

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