ClinVar Miner

List of variants in gene MYPN reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_032578.4(MYPN):c.2565-21A>G rs7097776 0.64504
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr) rs7079481 0.40619
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn) rs10997975 0.39270
NM_032578.4(MYPN):c.1130+17G>A rs2817760 0.26147
NM_032578.4(MYPN):c.1869C>A (p.Thr623=) rs61854624 0.12645
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.2163C>A (p.Ala721=) rs71584491 0.04239
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.3279C>T (p.Asp1093=) rs115033934 0.01152
NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu) rs111965755 0.01059
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607 0.00504
NM_032578.4(MYPN):c.3078G>A (p.Gly1026=) rs114479328 0.00385
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_032578.4(MYPN):c.1563C>T (p.Tyr521=) rs77249928 0.00189
NM_032578.4(MYPN):c.1790G>A (p.Arg597His) rs150911078 0.00158
NM_032578.4(MYPN):c.1104C>T (p.Gly368=) rs144764983 0.00154
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_032578.4(MYPN):c.1460-14T>A rs201156035 0.00096
NM_032578.4(MYPN):c.1293C>A (p.Ile431=) rs147184158 0.00081
NM_032578.4(MYPN):c.2228C>T (p.Pro743Leu) rs138583865 0.00076
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.1944G>A (p.Glu648=) rs151017803 0.00041
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801 0.00034
NM_032578.4(MYPN):c.845A>G (p.Glu282Gly) rs146336815 0.00014
NM_032578.4(MYPN):c.1725A>G (p.Lys575=) rs143213775 0.00009
NM_032578.4(MYPN):c.660G>A (p.Arg220=) rs372218308 0.00007
NM_032578.4(MYPN):c.1466G>A (p.Arg489Gln) rs141031460 0.00006
NM_032578.4(MYPN):c.3420C>T (p.Asp1140=) rs200786762 0.00004
NM_032578.4(MYPN):c.3720C>T (p.Asp1240=) rs146280945 0.00004
NM_032578.4(MYPN):c.1899C>T (p.Asn633=) rs147500426 0.00003
NM_032578.4(MYPN):c.3711G>A (p.Lys1237=) rs773992843 0.00002
NM_032578.4(MYPN):c.3853G>A (p.Gly1285Arg) rs750277122 0.00001
NM_032578.4(MYPN):c.903-18A>T rs775857947 0.00001
NM_032578.4(MYPN):c.2409C>G (p.Ser803Arg) rs3814182
NM_032578.4(MYPN):c.2468T>C (p.Ile823Thr) rs2134201372
NM_032578.4(MYPN):c.2565-8T>A rs2043210119
NM_032578.4(MYPN):c.2726A>C (p.Glu909Ala) rs1554849161
NM_032578.4(MYPN):c.3659+8A>G rs2134311963

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