ClinVar Miner

List of variants in gene MYBPC3 reported as pathogenic by CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

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Total variants: 15
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HGVS dbSNP
NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs) rs730880336
NM_000256.3(MYBPC3):c.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.1458-1G>C rs397515903
NM_000256.3(MYBPC3):c.1890del (p.Phe631fs) rs1565627110
NM_000256.3(MYBPC3):c.1895del (p.Met632fs) rs397515934
NM_000256.3(MYBPC3):c.2776_2777CA[2] (p.Thr927fs) rs727504265
NM_000256.3(MYBPC3):c.3079delGinsAA rs730880666
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs) rs727503172
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter) rs727504289
NM_000256.3(MYBPC3):c.3624del (p.Lys1209fs) rs397516029
NM_000256.3(MYBPC3):c.436dup (p.Thr146fs) rs397516049
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) rs397516059
NM_000256.3(MYBPC3):c.711C>G (p.Tyr237Ter) rs774316050
NM_000256.3(MYBPC3):c.852-1G>A rs368121566
NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter) rs367947846

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