ClinVar Miner

Variants in gene TRPM4 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: 44
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HGVS dbSNP gnomAD frequency
NM_017636.4(TRPM4):c.755G>A (p.Arg252His) rs146564314 0.00453
NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu) rs150391806 0.00310
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) rs71352737 0.00168
NM_017636.4(TRPM4):c.988G>A (p.Glu330Lys) rs145771389 0.00118
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter) rs140799936 0.00094
NM_017636.4(TRPM4):c.1376G>A (p.Arg459His) rs142312281 0.00086
NM_017636.4(TRPM4):c.2561A>G (p.Gln854Arg) rs172155862 0.00078
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) rs200038418 0.00064
NM_017636.4(TRPM4):c.2674C>T (p.Arg892Cys) rs147854826 0.00047
NM_017636.4(TRPM4):c.2254C>T (p.Gln752Ter) rs769917929 0.00041
NM_017636.4(TRPM4):c.308A>G (p.Tyr103Cys) rs144781529 0.00041
NM_017636.4(TRPM4):c.1242T>C (p.Phe414=) rs200633475 0.00031
NM_017636.4(TRPM4):c.1836G>A (p.Arg612=) rs112589404 0.00023
NM_017636.4(TRPM4):c.1119C>A (p.Phe373Leu) rs141531245 0.00022
NM_017636.4(TRPM4):c.748C>T (p.Arg250Cys) rs144208673 0.00021
NM_017636.4(TRPM4):c.1874-9C>T rs199805560 0.00020
NM_017636.4(TRPM4):c.1082T>G (p.Leu361Arg) rs148763371 0.00019
NM_017636.4(TRPM4):c.742C>T (p.Arg248Cys) rs373749900 0.00014
NM_017636.4(TRPM4):c.2133-9C>G rs530013543 0.00009
NM_017636.4(TRPM4):c.2020-4A>C rs369498574 0.00008
NM_017636.4(TRPM4):c.2085C>T (p.Leu695=) rs781191851 0.00008
NM_017636.4(TRPM4):c.286C>T (p.Arg96Ter) rs148855956 0.00008
NM_017636.4(TRPM4):c.2508C>T (p.Gly836=) rs750999263 0.00007
NM_017636.4(TRPM4):c.2761G>A (p.Val921Ile) rs377359117 0.00007
NM_017636.4(TRPM4):c.2779-5C>T rs374639233 0.00007
NM_017636.4(TRPM4):c.483C>T (p.Gly161=) rs147157308 0.00007
NM_017636.4(TRPM4):c.1873+4C>T rs746766318 0.00005
NM_017636.4(TRPM4):c.3450C>T (p.Arg1150=) rs763372824 0.00003
NM_017636.4(TRPM4):c.3377C>G (p.Ser1126Trp) rs567938424 0.00002
NM_017636.4(TRPM4):c.1473A>G (p.Leu491=) rs142739227 0.00001
NM_017636.4(TRPM4):c.1515T>A (p.His505Gln) rs1202211366 0.00001
NM_017636.4(TRPM4):c.2229G>A (p.Glu743=) rs745667706 0.00001
NM_017636.4(TRPM4):c.2231A>T (p.Lys744Met) rs569301210 0.00001
NM_017636.4(TRPM4):c.2403G>T (p.Leu801=) rs1455410186 0.00001
NM_017636.4(TRPM4):c.291G>A (p.Thr97=) rs886054576 0.00001
NM_017636.4(TRPM4):c.3489A>G (p.Gly1163=) rs760190293 0.00001
NM_017636.4(TRPM4):c.837T>C (p.Asp279=) rs373391017 0.00001
NM_017636.4(TRPM4):c.1908G>C (p.Val636=) rs950364050
NM_017636.4(TRPM4):c.2154A>C (p.Thr718=) rs370827464
NM_017636.4(TRPM4):c.2214G>A (p.Thr738=) rs1490908470
NM_017636.4(TRPM4):c.2358C>T (p.Asn786=) rs886054579
NM_017636.4(TRPM4):c.2529G>C (p.Gly843=) rs754769591
NM_017636.4(TRPM4):c.2766C>A (p.Ile922=) rs774680517
NM_017636.4(TRPM4):c.2987_3014del (p.Glu996fs) rs765535147

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