ClinVar Miner

List of variants in gene LARS2 reported as pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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NM_015340.4(LARS2):c.1077del (p.Ile360fs) rs398123037
NM_015340.4(LARS2):c.1556C>T (p.Thr519Met)
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947
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.371A>T (p.Asn124Ile) rs776171893
NM_015340.4(LARS2):c.683G>A (p.Arg228His) rs770440975
NM_015340.4(LARS2):c.880G>A (p.Glu294Lys)
NM_015340.4(LARS2):c.899C>T (p.Thr300Met) rs864309642

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