ClinVar Miner

List of variants reported as uncertain significance for Perrault syndrome 4

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_015340.4(LARS2):c.1178C>A (p.Ala393Asp) rs138121304 0.00029
NM_015340.4(LARS2):c.2620G>A (p.Glu874Lys) rs142215302 0.00015
NM_015340.4(LARS2):c.1784C>A (p.Ala595Asp) rs772859137 0.00001
NM_015340.4(LARS2):c.1291C>T (p.Arg431Trp)
NM_015340.4(LARS2):c.1922G>A (p.Ser641Asn)
NM_015340.4(LARS2):c.1979A>T (p.Asp660Val) rs1348647519
NM_015340.4(LARS2):c.2269A>T (p.Met757Leu) rs1478071728
NM_015340.4(LARS2):c.2285C>A (p.Ala762Asp) rs868411376
NM_015340.4(LARS2):c.2608G>T (p.Val870Phe)

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