ClinVar Miner

List of variants studied for Dilated cardiomyopathy 1KK by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_032578.4(MYPN):c.2703+17T>C rs6480306 0.98057
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr) rs7079481 0.40619
NM_032578.4(MYPN):c.1130+17G>A rs2817760 0.26147
NM_032578.4(MYPN):c.1245+17G>A rs2200897 0.09036
NM_032578.4(MYPN):c.1399G>A (p.Glu467Lys) rs74143030 0.04308
NM_032578.4(MYPN):c.843A>G (p.Pro281=) rs74143022 0.03534
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg) rs62620248 0.01839
NM_032578.4(MYPN):c.2925+9G>C rs12241644 0.01362
NM_032578.4(MYPN):c.3279C>T (p.Asp1093=) rs115033934 0.01152
NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu) rs111965755 0.01059
NM_032578.4(MYPN):c.1245+20A>G rs111634581 0.00919
NM_032578.4(MYPN):c.1600+21G>C rs41278498 0.00739
NM_032578.4(MYPN):c.3493+11C>T rs113674647 0.00520
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607 0.00504
NM_032578.4(MYPN):c.3421G>A (p.Ala1141Thr) rs150404143 0.00321
NM_032578.4(MYPN):c.1079-18T>C rs114932559 0.00278
NM_032578.4(MYPN):c.2236A>G (p.Thr746Ala) rs147287437 0.00225
NM_032578.4(MYPN):c.1893G>A (p.Arg631=) rs145440469 0.00198
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
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.2703+13G>A rs375320760 0.00063
NM_032578.4(MYPN):c.1935C>T (p.Pro645=) rs71535754 0.00056
NM_032578.4(MYPN):c.1944G>A (p.Glu648=) rs151017803 0.00041
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.1725A>G (p.Lys575=) rs143213775 0.00009
NM_032578.4(MYPN):c.251A>G (p.Asn84Ser) rs768968410 0.00007
NM_032578.4(MYPN):c.1899C>T (p.Asn633=) rs147500426 0.00003
NM_032578.4(MYPN):c.2428C>T (p.Arg810Cys) rs369380120 0.00002
NM_032578.4(MYPN):c.3075+20C>T rs377273417 0.00001
NM_032578.4(MYPN):c.3493+15_3493+20del rs11279655

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