ClinVar Miner

Variants in gene GARS1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_002047.4(GARS1):c.1700-45T>C rs118002895 0.02313
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00833
NM_002047.2(GARS1):c.-177T>C rs78980639 0.00437
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_002047.4(GARS1):c.1031+14T>G rs189589556 0.00213
NM_002047.4(GARS1):c.1962C>T (p.Ile654=) rs201927627 0.00120
NM_002047.4(GARS1):c.51G>A (p.Leu17=) rs202117737 0.00023
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483 0.00021
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799 0.00009
NM_002047.4(GARS1):c.1614-4G>A rs376324026
NM_002047.4(GARS1):c.47TGC[4] (p.Leu20del) rs150213018

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