ClinVar Miner

List of variants in gene YARS1 reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_003680.4(YARS1):c.166A>G (p.Met56Val) rs141115281 0.00001
NM_003680.4(YARS1):c.190A>C (p.Lys64Gln) rs1322723317 0.00001
NM_003680.4(YARS1):c.277C>T (p.Arg93Ter) rs781579762 0.00001
NM_003680.4(YARS1):c.1094del (p.Pro365fs) rs1413975578
NM_003680.4(YARS1):c.347A>G (p.Lys116Arg) rs148823175
NM_003680.4(YARS1):c.430G>A (p.Asp144Asn) rs1312825385
NM_003680.4(YARS1):c.510+2_510+10del
NM_003680.4(YARS1):c.913C>T (p.His305Tyr) rs1557447426

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