ClinVar Miner

List of variants in gene MYBPC3 reported as benign by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.2067+118A>G rs2856653 0.67734
NM_000256.3(MYBPC3):c.2738-110T>A rs2301216 0.41619
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373 0.38767
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09621
NM_000256.3(MYBPC3):c.786C>T (p.Thr262=) rs11570058 0.08958
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) rs3729986 0.06899
NM_000256.3(MYBPC3):c.2308+18C>G rs3729948 0.04984
NM_000256.3(MYBPC3):c.537C>T (p.Ala179=) rs11570051 0.03962
NM_000256.3(MYBPC3):c.2737+12C>T rs3729936 0.03309
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.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu) rs147315081 0.00427
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799 0.00223
NM_000256.3(MYBPC3):c.1458-17C>T rs3729945 0.00203
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.506-12del rs11570050
NM_000256.3(MYBPC3):c.558G>T (p.Pro186=) rs370962887

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