ClinVar Miner

Variants with conflicting interpretations "benign" from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute and "likely benign" from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Minimum review status of the submission from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute: Collection method of the submission from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01097
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473 0.00195
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_004415.4(DSP):c.741G>A (p.Ala247=) rs2806234 0.00083
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00073
NM_002471.4(MYH6):c.4986G>A (p.Ala1662=) rs77416370 0.00066
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00002
NM_004006.3(DMD):c.6072T>C (p.Cys2024=) rs373804251 0.00002

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