ClinVar Miner

List of variants in gene IARS2 studied for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_018060.4(IARS2):c.1016C>T (p.Ser339Phe)
NM_018060.4(IARS2):c.1255G>A (p.Asp419Asn) rs745601033
NM_018060.4(IARS2):c.1504A>C (p.Ile502Leu) rs747014267
NM_018060.4(IARS2):c.1821G>A (p.Trp607Ter) rs373436822
NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys) rs143722284
NM_018060.4(IARS2):c.2282A>G (p.His761Arg) rs1571863769
NM_018060.4(IARS2):c.2450G>A (p.Arg817His) rs146618526
NM_018060.4(IARS2):c.2620G>A (p.Gly874Arg) rs151241066
NM_018060.4(IARS2):c.2725C>T (p.Pro909Ser) rs1571865562
NM_018060.4(IARS2):c.2726C>T (p.Pro909Leu) rs587783070
NM_018060.4(IARS2):c.601C>T (p.Arg201Cys)
NM_018060.4(IARS2):c.680T>C (p.Phe227Ser) rs1571845061

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