ClinVar Miner

Variants in gene RARS2 with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) rs143389605 0.00055
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00044
NM_020320.5(RARS2):c.472_474del (p.Lys158del) rs757743894 0.00016
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro) rs775295739 0.00006
NM_020320.5(RARS2):c.1564G>A (p.Val522Ile) rs201386427 0.00006
NM_020320.5(RARS2):c.1679G>A (p.Arg560His) rs756502974 0.00003
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys) rs767150990 0.00002
NM_020320.5(RARS2):c.1650+5G>A rs750433723 0.00001
NM_020320.5(RARS2):c.517G>A (p.Asp173Asn) rs769045045 0.00001
NM_020320.5(RARS2):c.-2A>G rs201150141
NM_020320.5(RARS2):c.25A>G (p.Ile9Val)
NM_020320.5(RARS2):c.734G>A (p.Arg245Gln)

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