ClinVar Miner

List of variants reported for Dilated cardiomyopathy 1KK by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_032578.4(MYPN):c.2703+17T>C rs6480306 0.98057
NM_032578.4(MYPN):c.2925+9G>C rs12241644 0.01362
NM_032578.4(MYPN):c.1245+20A>G rs111634581 0.00919
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607 0.00504
NM_032578.4(MYPN):c.1893G>A (p.Arg631=) rs145440469 0.00198
NM_032578.4(MYPN):c.1246-19G>A rs75739924 0.00157
NM_032578.4(MYPN):c.1104C>T (p.Gly368=) rs144764983 0.00154
NM_032578.4(MYPN):c.3792C>T (p.Tyr1264=) rs142307556 0.00100
NM_032578.4(MYPN):c.1460-14T>A rs201156035 0.00096
NM_032578.4(MYPN):c.2880T>G (p.Ser960=) rs146028308 0.00096
NM_032578.4(MYPN):c.1293C>A (p.Ile431=) rs147184158 0.00081
NM_032578.4(MYPN):c.1236C>A (p.Thr412=) rs151220474 0.00058
NM_032578.4(MYPN):c.1935C>T (p.Pro645=) rs71535754 0.00056
NM_032578.4(MYPN):c.1662A>C (p.Ala554=) rs71584488 0.00037
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801 0.00034
NM_032578.4(MYPN):c.2864G>A (p.Arg955Gln) rs199476414 0.00010
NM_032578.4(MYPN):c.1725A>G (p.Lys575=) rs143213775 0.00009
NM_032578.4(MYPN):c.3720C>T (p.Asp1240=) rs146280945 0.00004
NM_032578.4(MYPN):c.3075+20C>T rs377273417 0.00001
NM_032578.4(MYPN):c.2726A>C (p.Glu909Ala) rs1554849161
NM_032578.4(MYPN):c.3735G>T (p.Thr1245=) rs184347775

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