ClinVar Miner

List of variants in gene MYBPC3 reported as not provided by GenomeConnect, ClinGen

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916 0.00003
NM_000256.3(MYBPC3):c.49C>T (p.Arg17Trp) rs747857800 0.00002
NM_000256.3(MYBPC3):c.3190+1G>A rs111683277 0.00001
NM_000256.3(MYBPC3):c.1577_1580dup (p.Cys528fs) rs730880712
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.654+1G>A rs730880621

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