ClinVar Miner

List of variants reported as uncertain significance for Dilated cardiomyopathy 1S by Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_001267550.2(TTN):c.55745C>T (p.Pro18582Leu) rs201194435 0.00011
NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg) rs371512914 0.00010
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) rs151115778 0.00010
NM_014000.3(VCL):c.2444A>G (p.Lys815Arg) rs373010557 0.00008
NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp) rs372787601 0.00005
NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln) rs752015224 0.00004
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val) rs373815064 0.00003
NM_001267550.2(TTN):c.106403T>A (p.Leu35468His) rs952475900 0.00001
NM_001267550.2(TTN):c.92595A>C (p.Leu30865Phe) rs192086736 0.00001
NM_004415.4(DSP):c.136G>A (p.Gly46Ser) rs371517189 0.00001
NM_001267550.2(TTN):c.101774_101776dup (p.Glu33925dup) rs1553497680
NM_001267550.2(TTN):c.11887G>A (p.Gly3963Arg) rs1000514079
NM_001267550.2(TTN):c.41486G>C (p.Gly13829Ala) rs1114167326
NM_001267550.2(TTN):c.521A>G (p.Tyr174Cys) rs1114167334
NM_001267550.2(TTN):c.83062C>T (p.Arg27688Cys) rs757441189
NM_001267550.2(TTN):c.86637T>A (p.Asn28879Lys) rs1114167328
NM_001276345.2(TNNT2):c.674G>A (p.Arg225Lys) rs1114167329
NM_003280.3(TNNC1):c.184G>A (p.Asp62Asn) rs1040079072
NM_004415.4(DSP):c.1430A>G (p.His477Arg) rs1114167325

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