ClinVar Miner

List of variants in gene MYPN reported as pathogenic for Dilated cardiomyopathy 1KK

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 0.00083
NM_032578.4(MYPN):c.2653C>T (p.Arg885Ter) rs199476412 0.00001
NM_032578.4(MYPN):c.3263G>A (p.Arg1088His) rs71584501 0.00001
NC_000010.10:g.(?_69918233)_(69926433_?)del
NC_000010.10:g.(?_69961566)_(69961771_?)del
NM_032578.4(MYPN):c.1204C>T (p.Gln402Ter)
NM_032578.4(MYPN):c.1273G>T (p.Gly425Ter) rs777033025
NM_032578.4(MYPN):c.1465C>T (p.Arg489Ter)
NM_032578.4(MYPN):c.1714del (p.Gln572fs)
NM_032578.4(MYPN):c.1722del (p.Lys575fs) rs2134168183
NM_032578.4(MYPN):c.1864C>T (p.Gln622Ter) rs1226400049
NM_032578.4(MYPN):c.1910dup (p.Thr639fs) rs2134169413
NM_032578.4(MYPN):c.1990C>T (p.Gln664Ter) rs2134198422
NM_032578.4(MYPN):c.2084del (p.Val694_Leu695insTer)
NM_032578.4(MYPN):c.211G>T (p.Glu71Ter)
NM_032578.4(MYPN):c.2689A>T (p.Arg897Ter) rs2134204980
NM_032578.4(MYPN):c.2882C>T (p.Pro961Leu) rs864621995
NM_032578.4(MYPN):c.295C>T (p.Arg99Ter) rs756823228
NM_032578.4(MYPN):c.2968G>T (p.Glu990Ter) rs755507922
NM_032578.4(MYPN):c.2986C>T (p.Arg996Ter)
NM_032578.4(MYPN):c.3127del (p.Ser1043fs) rs1589608098
NM_032578.4(MYPN):c.3214C>T (p.Arg1072Ter) rs1057519573
NM_032578.4(MYPN):c.3244_3245dup (p.Met1082fs)
NM_032578.4(MYPN):c.3327_3328del (p.Asn1109fs)
NM_032578.4(MYPN):c.3403_3404del (p.Pro1135fs) rs2134300034
NM_032578.4(MYPN):c.3409dup (p.Thr1137fs)
NM_032578.4(MYPN):c.367C>T (p.Arg123Ter) rs2133994592
NM_032578.4(MYPN):c.608C>A (p.Ser203Ter) rs2133995502
NM_032578.4(MYPN):c.781_784del (p.Tyr261fs)

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