ClinVar Miner

List of variants in gene MYPN reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_032578.4(MYPN):c.1647T>C (p.Ser549=) rs2673794 0.57747
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr) rs7079481 0.40619
NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu) rs10823148 0.39447
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn) rs10997975 0.39270
NM_032578.4(MYPN):c.2120G>A (p.Ser707Asn) rs7916821 0.39079
NM_032578.4(MYPN):c.1875C>T (p.Pro625=) rs2673793 0.17340
NM_032578.4(MYPN):c.1178T>C (p.Val393Ala) rs11596653 0.11086
NM_032578.4(MYPN):c.2163C>A (p.Ala721=) rs71584491 0.04239
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg) rs62620248 0.01839
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_032578.4(MYPN):c.1790G>A (p.Arg597His) rs150911078 0.00158
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_032578.4(MYPN):c.1103G>A (p.Gly368Asp) rs555527385 0.00006
NM_032578.4(MYPN):c.2540G>T (p.Gly847Val) rs181848049 0.00006
NM_032578.4(MYPN):c.3763G>A (p.Val1255Met) rs750655311 0.00006
NM_032578.4(MYPN):c.3935G>A (p.Arg1312Gln) rs761812034 0.00003
NM_032578.4(MYPN):c.2114C>T (p.Thr705Ile) rs768471574 0.00001
NM_032578.4(MYPN):c.2465G>A (p.Arg822Gln) rs372903698 0.00001
NM_032578.4(MYPN):c.80G>C (p.Arg27Pro) rs529359915 0.00001
NM_032578.4(MYPN):c.109C>T (p.Pro37Ser) rs1048512621
NM_032578.4(MYPN):c.1859C>G (p.Thr620Ser) rs958954733
NM_032578.4(MYPN):c.2409C>G (p.Ser803Arg) rs3814182
NM_032578.4(MYPN):c.2476C>A (p.Pro826Thr) rs546434497

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