ClinVar Miner

List of variants studied for Perrault syndrome 4

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Total variants: 15
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NM_015340.4(LARS2):c.1077del (p.Ile360fs) rs398123037
NM_015340.4(LARS2):c.1115C>G (p.Ser372Ter) rs1559484149
NM_015340.4(LARS2):c.1237G>A (p.Glu413Lys)
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947
NM_015340.4(LARS2):c.1607C>T (p.Pro536Leu) rs1575292827
NM_015340.4(LARS2):c.1692C>T (p.Ala564=) rs149911756
NM_015340.4(LARS2):c.1784C>A (p.Ala595Asp) rs772859137
NM_015340.4(LARS2):c.1886C>T (p.Thr629Met) rs398123036
NM_015340.4(LARS2):c.1912G>A (p.Glu638Lys) rs864309643
NM_015340.4(LARS2):c.1987C>T (p.Arg663Trp) rs774649299
NM_015340.4(LARS2):c.2269A>T (p.Met757Leu) rs1478071728
NM_015340.4(LARS2):c.371A>T (p.Asn124Ile) rs776171893
NM_015340.4(LARS2):c.440A>C (p.Gln147Pro) rs536853368
NM_015340.4(LARS2):c.899C>T (p.Thr300Met) rs864309642

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