ClinVar Miner

List of variants studied for Perrault syndrome 2

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP
HARS2, VAL368LEU
NM_012208.4(HARS2):c.1102G>T (p.Val368Leu) rs376177973
NM_012208.4(HARS2):c.137T>A (p.Leu46Gln) rs1562047621
NM_012208.4(HARS2):c.172A>G (p.Lys58Glu) rs201392711
NM_012208.4(HARS2):c.259C>T (p.Arg87Cys) rs754069818
NM_012208.4(HARS2):c.448C>T (p.Arg150Cys) rs140540222
NM_012208.4(HARS2):c.489dup (p.Ile164fs) rs781549967
NM_012208.4(HARS2):c.598C>G (p.Leu200Val) rs397515410
NM_012208.4(HARS2):c.980G>A (p.Arg327Gln) rs778499309

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