ClinVar Miner

Variants in gene LARS2 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_015340.4(LARS2):c.2203G>A (p.Val735Ile) rs141011840 0.00045
NM_015340.4(LARS2):c.1178C>A (p.Ala393Asp) rs138121304 0.00029
NM_015340.4(LARS2):c.338G>A (p.Arg113Gln) rs138437422 0.00023
NM_015340.4(LARS2):c.1947C>A (p.Asp649Glu) rs143155251 0.00022
NM_015340.4(LARS2):c.1383T>C (p.Ile461=) rs35347543 0.00014
NM_015340.4(LARS2):c.763G>A (p.Ala255Thr) rs201911936 0.00006
NM_015340.4(LARS2):c.944C>T (p.Ser315Leu) rs755162646 0.00004
NM_015340.4(LARS2):c.2404+4C>T rs199693918 0.00002

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