ClinVar Miner

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

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
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.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) rs765088174 0.00005
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter) rs199835443 0.00004
NM_020320.5(RARS2):c.1679G>A (p.Arg560His) rs756502974 0.00003
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys) rs772887102 0.00003
NM_020320.5(RARS2):c.1406G>A (p.Arg469His) rs759331139 0.00001
NM_020320.5(RARS2):c.1582_1583dup (p.Leu528fs) rs863224183 0.00001
NM_020320.5(RARS2):c.-2A>G rs201150141
NM_020320.5(RARS2):c.1340_1365del (p.Phe447fs) rs1064795060
NM_020320.5(RARS2):c.1390C>T (p.Gln464Ter) rs753312969
NM_020320.5(RARS2):c.1612del (p.Thr538fs) rs781417096
NM_020320.5(RARS2):c.1A>G (p.Met1Val) rs774923951
NM_020320.5(RARS2):c.1A>T (p.Met1Leu) rs774923951
NM_020320.5(RARS2):c.42del (p.Arg15fs) rs777942571
NM_020320.5(RARS2):c.474_477del (p.Glu159fs) rs774755297
NM_020320.5(RARS2):c.734G>A (p.Arg245Gln)

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