ClinVar Miner

List of variants in gene PLEKHM2 reported as benign for Dilated Cardiomyopathy, Recessive

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_015164.4(PLEKHM2):c.2148G>A (p.Thr716=) rs3817269 0.34895
NM_015164.4(PLEKHM2):c.942-16G>A rs41393951 0.27448
NM_015164.4(PLEKHM2):c.95T>C (p.Ile32Thr) rs12091750 0.25159
NM_015164.4(PLEKHM2):c.291G>A (p.Leu97=) rs16851970 0.22866
NM_015164.4(PLEKHM2):c.61-7del rs66610224 0.19529
NM_015164.4(PLEKHM2):c.1242C>T (p.Ile414=) rs7517033 0.04763
NM_015164.4(PLEKHM2):c.1084C>G (p.Arg362Gly) rs61738983 0.00778
NM_015164.4(PLEKHM2):c.2211A>G (p.Ala737=) rs116455686 0.00746
NM_015164.4(PLEKHM2):c.942-3C>T rs138211346 0.00495
NM_015164.4(PLEKHM2):c.561C>T (p.His187=) rs115985482 0.00431
NM_015164.4(PLEKHM2):c.891G>C (p.Glu297Asp) rs61738982 0.00346
NM_015164.4(PLEKHM2):c.1797C>T (p.His599=) rs150750784 0.00309
NM_015164.4(PLEKHM2):c.1060C>T (p.Arg354Cys) rs143372200 0.00175
NM_015164.4(PLEKHM2):c.2805+19C>T rs116131488 0.00156
NM_015164.4(PLEKHM2):c.432C>T (p.Ser144=) rs201860640 0.00147
NM_015164.4(PLEKHM2):c.942-7G>A rs200670249 0.00146
NM_015164.4(PLEKHM2):c.2209-19G>A rs201270093 0.00144
NM_015164.4(PLEKHM2):c.61-7C>T rs76932674 0.00122
NM_015164.4(PLEKHM2):c.2209-14C>T rs189697701 0.00111
NM_015164.4(PLEKHM2):c.1987-18C>T rs377297774 0.00106
NM_015164.4(PLEKHM2):c.2406G>T (p.Gly802=) rs116565708 0.00093
NM_015164.4(PLEKHM2):c.278-17C>T rs191383513 0.00083
NM_015164.4(PLEKHM2):c.1286G>A (p.Arg429His) rs61739679 0.00075
NM_015164.4(PLEKHM2):c.713-5C>A rs200559886 0.00054
NM_015164.4(PLEKHM2):c.2346G>A (p.Ala782=) rs368873177 0.00051
NM_015164.4(PLEKHM2):c.1265A>G (p.Asp422Gly) rs376306853 0.00034
NM_015164.4(PLEKHM2):c.1987-17G>A rs373891163 0.00034
NM_015164.4(PLEKHM2):c.1221G>A (p.Gly407=) rs558893831 0.00030
NM_015164.4(PLEKHM2):c.153C>T (p.His51=) rs200766805 0.00019
NM_015164.4(PLEKHM2):c.2224G>A (p.Val742Met) rs531140342 0.00019
NM_015164.4(PLEKHM2):c.2766C>T (p.Ser922=) rs199811699 0.00011
NM_015164.4(PLEKHM2):c.1914C>T (p.Leu638=) rs572679523 0.00008
NM_015164.4(PLEKHM2):c.388G>A (p.Val130Ile) rs550524661 0.00006
NM_015164.4(PLEKHM2):c.831A>G (p.Ala277=) rs533457525 0.00003
NM_015164.4(PLEKHM2):c.399C>T (p.His133=) rs570703770 0.00002
NM_015164.4(PLEKHM2):c.1322C>G (p.Ser441Cys) rs373711687
NM_015164.4(PLEKHM2):c.2747C>T (p.Ala916Val) rs536599433
NM_015164.4(PLEKHM2):c.2805+18dup rs761803250
NM_015164.4(PLEKHM2):c.61-7_61-6del rs367663991
NM_015164.4(PLEKHM2):c.61-8del rs3830503
NM_015164.4(PLEKHM2):c.61-8dup

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