ClinVar Miner

List of variants in gene MYBPC3 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00187
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973 0.00076
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870 0.00076
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253 0.00058
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692 0.00047
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906 0.00043
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_000256.3(MYBPC3):c.906-7G>T rs397516079 0.00036
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001 0.00034
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile) rs376504548 0.00025
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) rs397515985 0.00021
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=) rs376041792 0.00016
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=) rs372502369 0.00016
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722 0.00014
NM_000256.3(MYBPC3):c.12G>A (p.Pro4=) rs377292092 0.00012
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000256.3(MYBPC3):c.999C>T (p.Tyr333=) rs367947846 0.00010
NM_000256.3(MYBPC3):c.2961C>T (p.Val987=) rs761700877 0.00009
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000256.3(MYBPC3):c.2308+8C>T rs373135387 0.00006
NM_000256.3(MYBPC3):c.1494C>G (p.Thr498=) rs397515906 0.00005
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln) rs11570060 0.00004
NM_000256.3(MYBPC3):c.103C>T (p.Arg35Trp) rs727504249 0.00003
NM_000256.3(MYBPC3):c.121C>T (p.Arg41Cys) rs373638535 0.00003
NM_000256.3(MYBPC3):c.1308C>T (p.Cys436=) rs759826878 0.00003
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_000256.3(MYBPC3):c.1758C>T (p.Pro586=) rs727505203 0.00003
NM_000256.3(MYBPC3):c.3315C>A (p.Ala1105=) rs200372325 0.00003
NM_000256.3(MYBPC3):c.3777G>A (p.Gln1259=) rs746042492 0.00003
NM_000256.3(MYBPC3):c.927-2A>G rs397516082 0.00003
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000256.3(MYBPC3):c.3414C>T (p.Arg1138=) rs753671465 0.00002
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NM_000256.3(MYBPC3):c.2671C>T (p.Arg891Trp) rs727504418 0.00001
NM_000256.3(MYBPC3):c.2962G>A (p.Gly988Arg) rs779781718 0.00001
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949 0.00001
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167 0.00001
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly) rs730880633
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1235_1236del (p.Ile411_Phe412insTer) rs397515894
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs) rs2142860924
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1838dup (p.Asp613fs) rs730880649
NM_000256.3(MYBPC3):c.1927+424C>T
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.2107G>A (p.Glu703Lys) rs1595844702
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2635G>T (p.Glu879Ter) rs1565624607
NM_000256.3(MYBPC3):c.2639_2642del (p.Asp880fs)
NM_000256.3(MYBPC3):c.289G>T (p.Ala97Ser) rs2095900531
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) rs397515992
NM_000256.3(MYBPC3):c.2941C>T (p.Gln981Ter) rs1282789659
NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs) rs1064793202
NM_000256.3(MYBPC3):c.3332_3335dup (p.Trp1112Ter) rs730880337
NM_000256.3(MYBPC3):c.3425A>C (p.Gln1142Pro)
NM_000256.3(MYBPC3):c.3627G>A (p.Lys1209=) rs1555120261
NM_000256.3(MYBPC3):c.3729dup (p.Cys1244fs) rs1177781586
NM_000256.3(MYBPC3):c.3815-11_3815-9del rs1329380245
NM_000256.3(MYBPC3):c.519del (p.Phe174fs) rs1595849742
NM_000256.3(MYBPC3):c.653_654insCTGGTGACCC (p.Lys218delinsAsnTrpTer) rs2095898363
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000256.3(MYBPC3):c.806C>A (p.Ser269Ter)
NM_000256.3(MYBPC3):c.924G>C (p.Pro308=)
NM_000256.3(MYBPC3):c.933G>C (p.Ser311=) rs374326087

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