ClinVar Miner

Variants in gene PLA2G6 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 23
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.495G>C (p.Gly165=) rs150190277 0.00372
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser) rs143826762 0.00092
NM_003560.4(PLA2G6):c.1428-8C>T rs370288820 0.00058
NM_003560.4(PLA2G6):c.966C>T (p.His322=) rs144033740 0.00044
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu) rs147948449 0.00040
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His) rs141825182 0.00038
NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn) rs150024227 0.00035
NM_003560.4(PLA2G6):c.1408A>G (p.Met470Val) rs201801144 0.00034
NM_003560.4(PLA2G6):c.773C>T (p.Ser258Leu) rs147924368 0.00024
NM_003560.4(PLA2G6):c.441G>A (p.Ala147=) rs371920697 0.00019
NM_003560.4(PLA2G6):c.396C>T (p.Arg132=) rs146252218 0.00018
NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile) rs146684391 0.00017
NM_003560.4(PLA2G6):c.564C>T (p.Thr188=) rs185396488 0.00016
NM_003560.4(PLA2G6):c.2259C>T (p.Val753=) rs749966284 0.00014
NM_003560.4(PLA2G6):c.1725G>A (p.Thr575=) rs200599704 0.00010
NM_003560.4(PLA2G6):c.895-11G>A rs371094406 0.00008
NM_003560.4(PLA2G6):c.1614C>T (p.Arg538=) rs373930150 0.00007
NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr) rs528966598 0.00004
NM_003560.4(PLA2G6):c.1983G>A (p.Thr661=) rs150572286 0.00003
NM_003560.4(PLA2G6):c.895-5C>T rs372128546 0.00003
NM_003560.4(PLA2G6):c.1348+10G>A rs761202760 0.00002
NM_003560.4(PLA2G6):c.2028C>T (p.Ile676=) rs561645994 0.00001
NM_003560.4(PLA2G6):c.266C>A (p.Ser89Tyr) rs142715413

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