ClinVar Miner

List of variants in gene IARS2 reported as uncertain significance for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_018060.4(IARS2):c.1016C>T (p.Ser339Phe) rs139437119 0.00061
NM_018060.4(IARS2):c.601C>T (p.Arg201Cys) rs768101579 0.00001
NM_018060.4(IARS2):c.1244T>C (p.Leu415Pro)
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.1562G>A (p.Cys521Tyr)
NM_018060.4(IARS2):c.1821G>A (p.Trp607Ter) rs373436822
NM_018060.4(IARS2):c.2186C>T (p.Thr729Ile) rs1245663438
NM_018060.4(IARS2):c.349T>C (p.Tyr117His)
NM_018060.4(IARS2):c.991G>A (p.Val331Ile) rs201619737

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