ClinVar Miner

List of variants reported as benign for Hypertrophic cardiomyopathy 4 by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373 0.38767
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09513
NM_000256.3(MYBPC3):c.786C>T (p.Thr262=) rs11570058 0.08852
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) rs3729986 0.06668
NM_000256.3(MYBPC3):c.2308+18C>G rs3729948 0.04984
NM_000256.3(MYBPC3):c.2737+12C>T rs3729936 0.03505
NM_000256.3(MYBPC3):c.2547C>T (p.Val849=) rs3729953 0.03083
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719 0.02170
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_000256.3(MYBPC3):c.655-18G>A rs113249211 0.00890
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00577
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00261
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00199
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_000256.3(MYBPC3):c.926+8C>T rs377595584 0.00042
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722 0.00040
NM_000256.3(MYBPC3):c.906-7G>T rs397516079 0.00036
NC_000011.10:g.47349939G>A rs561595897 0.00016
NM_000256.3(MYBPC3):c.12G>A (p.Pro4=) rs377292092 0.00012
NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=) rs35690719 0.00011
NM_000256.3(MYBPC3):c.2308+12C>T rs727505335 0.00003
NC_000011.10:g.47347499G>T rs371941585
NC_000011.10:g.47349937del rs11570050

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