ClinVar Miner

Variants in gene RARS2 with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
770 53 0 32 16 0 13 53

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 18 3 0 0
likely pathogenic 18 0 13 0 0
uncertain significance 3 13 0 16 1
likely benign 0 0 16 0 14
benign 0 0 1 14 0

All variants with conflicting interpretations #

Total variants: 53
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020320.5(RARS2):c.872A>G (p.Lys291Arg) rs17850652 0.09110
NM_020320.5(RARS2):c.991A>G (p.Ile331Val) rs3757370 0.02330
NM_020320.5(RARS2):c.63A>G (p.Pro21=) rs7748563 0.01309
NM_020320.5(RARS2):c.606C>T (p.Leu202=) rs75794097 0.01095
NM_020320.5(RARS2):c.-8A>C rs28381459 0.00245
NM_020320.5(RARS2):c.1410C>A (p.Leu470=) rs139564081 0.00223
NM_020320.5(RARS2):c.155A>T (p.Lys52Ile) rs73496064 0.00172
NM_020320.5(RARS2):c.456T>C (p.Asn152=) rs141374913 0.00070
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) rs143389605 0.00055
NM_020320.5(RARS2):c.78A>C (p.Thr26=) rs138360045 0.00046
NM_020320.5(RARS2):c.975-14C>T rs199941996 0.00045
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00044
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu) rs142348911 0.00026
NM_020320.5(RARS2):c.207A>G (p.Ala69=) rs568483789 0.00025
NM_020320.5(RARS2):c.396-13A>T rs181740811 0.00019
NM_020320.5(RARS2):c.213+5G>A rs369852737 0.00016
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.1366C>T (p.Arg456Cys) rs147844153 0.00011
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.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) rs765088174 0.00005
NM_020320.5(RARS2):c.245G>A (p.Ser82Asn) rs749061654 0.00004
NM_020320.5(RARS2):c.36+4T>C rs764668779 0.00004
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.916G>A (p.Asp306Asn) rs781646725 0.00003
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys) rs767150990 0.00002
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.1650+5G>A rs750433723 0.00001
NM_020320.5(RARS2):c.1678C>T (p.Arg560Cys) rs562472225 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.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.25A>G (p.Ile9Val)
NM_020320.5(RARS2):c.42del (p.Arg15fs) rs777942571
NM_020320.5(RARS2):c.452-22TA[2] rs772255685
NM_020320.5(RARS2):c.474_477del (p.Glu159fs) rs774755297
NM_020320.5(RARS2):c.641C>T (p.Ala214Val) rs863224178
NM_020320.5(RARS2):c.726A>G (p.Gln242=) rs145499324
NM_020320.5(RARS2):c.734G>A (p.Arg245Gln)
NM_020320.5(RARS2):c.772-3del rs368859792
NM_020320.5(RARS2):c.772-4_772-3del rs368859792
NM_020320.5(RARS2):c.818G>T (p.Arg273Leu) rs139721632
NM_020320.5(RARS2):c.888G>A (p.Thr296=) rs145189950
NM_020320.5(RARS2):c.888G>C (p.Thr296=) rs145189950

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