ClinVar Miner

List of variants in gene HARS2 reported as uncertain significance for Perrault syndrome 2

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_012208.4(HARS2):c.1254G>C (p.Gln418His) rs138090816 0.00015
NM_012208.4(HARS2):c.1320G>T (p.Glu440Asp) rs1429114032
NM_012208.4(HARS2):c.1403G>C (p.Gly468Ala) rs748402163
NM_012208.4(HARS2):c.1450_1451delinsC (p.Ser484fs)
NM_012208.4(HARS2):c.1462-3C>T
NM_012208.4(HARS2):c.322T>C (p.Tyr108His) rs2149852638
NM_012208.4(HARS2):c.489dup (p.Ile164fs) rs781549967

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