ClinVar Miner

List of variants studied for Perrault syndrome 4 by Reproductive Development, Murdoch Childrens Research Institute

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947 0.00025
NM_015340.4(LARS2):c.1237G>A (p.Glu413Lys) rs376296747 0.00003
NM_015340.4(LARS2):c.1670A>G (p.Tyr557Cys) rs1269970737 0.00001
NM_015340.4(LARS2):c.1987C>T (p.Arg663Trp) rs774649299 0.00001

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