ClinVar Miner

List of variants studied for Perrault syndrome 4 by Genome-Nilou Lab

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_015340.4(LARS2):c.2358A>G (p.Val786=) rs267220 0.87505
NM_015340.4(LARS2):c.2169T>C (p.Ala723=) rs2170549 0.85995
NM_015340.4(LARS2):c.1053T>C (p.Leu351=) rs7610357 0.78771
NM_015340.4(LARS2):c.1455G>A (p.Ala485=) rs2128361 0.78756
NM_015340.4(LARS2):c.1760+12T>C rs2306522 0.50630
NM_015340.4(LARS2):c.1983G>A (p.Thr661=) rs11549809 0.26851

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