ClinVar Miner

List of variants reported as uncertain significance for Hypertrophic cardiomyopathy 4 by 3billion

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.814C>T (p.Arg272Cys) rs397516075 0.00007
NM_000256.3(MYBPC3):c.3072C>A (p.Ser1024Arg) rs767605155 0.00002
NM_000256.3(MYBPC3):c.3548T>G (p.Phe1183Cys) rs397516024 0.00001
NM_000256.3(MYBPC3):c.3815-10T>G rs397516043 0.00001
NC_000011.10:g.47332282_47332306del rs36212066
NM_000256.3(MYBPC3):c.1224-33G>A
NM_000256.3(MYBPC3):c.1245C>A (p.Ile415=)
NM_000256.3(MYBPC3):c.1351G>A (p.Glu451Lys)
NM_000256.3(MYBPC3):c.1661T>G (p.Leu554Arg)
NM_000256.3(MYBPC3):c.2413G>A (p.Gly805Ser) rs1482119148
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2961C>A (p.Val987=)
NM_000256.3(MYBPC3):c.909-7G>A rs1373705247

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