ClinVar Miner

List of variants reported as likely benign for Hypertrophic cardiomyopathy 4

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09513
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719 0.02170
NM_000256.3(MYBPC3):c.*236G>A rs11570121 0.01658
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952 0.00756
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00577
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
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.1458-17C>T rs3729945 0.00188
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664 0.00119
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082 0.00111
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973 0.00076
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906 0.00049
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692 0.00047
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722 0.00040
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806 0.00039
NM_000256.3(MYBPC3):c.906-7G>T rs397516079 0.00036
NM_000256.3(MYBPC3):c.*113G>T rs117960173 0.00025
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=) rs367927327 0.00019
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=) rs376041792 0.00017
NC_000011.10:g.47349939G>A rs561595897 0.00016
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) rs532996422 0.00014
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) rs190765116 0.00012
NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=) rs35690719 0.00011
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu) rs367729718 0.00011
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=) rs368035400 0.00011
NM_000256.3(MYBPC3):c.3573G>A (p.Ser1191=) rs371488508 0.00004
NM_000256.3(MYBPC3):c.1790+7G>A rs374852831 0.00003
NM_000256.3(MYBPC3):c.645C>T (p.Arg215=) rs397516064 0.00003
NM_000256.3(MYBPC3):c.654+18G>A rs758836172 0.00003
NM_000256.3(MYBPC3):c.1593G>A (p.Gly531=) rs727503199 0.00002
NC_000011.10:g.47332282_47332306del rs36212066
NM_000256.3(MYBPC3):c.1008C>T (p.Ile336=) rs397515880
NM_000256.3(MYBPC3):c.558G>T (p.Pro186=) rs370962887
NM_000256.3(MYBPC3):c.655-25A>G rs2142866463

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