ClinVar Miner

List of variants studied for Perrault syndrome 2 by ClinVar Staff, National Center for Biotechnology Information (NCBI)

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.598C>G (p.Leu200Val) rs397515410 0.00003
NM_012208.4(HARS2):c.1102G>T (p.Val368Leu) rs376177973

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