ClinVar Miner

List of variants in gene MYBPC3 reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
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.3392T>C (p.Ile1131Thr) rs370890951 0.00076
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870 0.00076
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636 0.00063
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253 0.00058
NM_000256.3(MYBPC3):c.926+8C>T rs377595584 0.00042
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp) rs370338674 0.00038
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001 0.00034
NM_000256.3(MYBPC3):c.772+10C>T rs375525278 0.00030
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922 0.00026
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) rs377225516 0.00024
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) rs397515985 0.00021
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn) rs371140684 0.00021
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293 0.00020
NM_000256.3(MYBPC3):c.2980C>T (p.Leu994Phe) rs375776406 0.00019
NM_000256.3(MYBPC3):c.*127G>A rs549519453 0.00018
NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile) rs373519667 0.00017
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499 0.00017
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.2210C>T (p.Thr737Met) rs199893357 0.00016
NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile) rs397516016 0.00013
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) rs397516054 0.00013
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=) rs368035400 0.00012
NM_000256.3(MYBPC3):c.*275G>A rs916334281 0.00011
NM_000256.3(MYBPC3):c.684T>G (p.Asp228Glu) rs532498780 0.00010
NM_000256.3(MYBPC3):c.999C>T (p.Tyr333=) rs367947846 0.00010
NM_000256.3(MYBPC3):c.648C>T (p.Ala216=) rs777418402 0.00009
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019 0.00007
NM_000256.3(MYBPC3):c.132C>T (p.Arg44=) rs377579620 0.00006
NM_000256.3(MYBPC3):c.1553T>C (p.Met518Thr) rs886048378 0.00006
NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=) rs61897383 0.00006
NM_000256.3(MYBPC3):c.237C>T (p.Tyr79=) rs730880698 0.00006
NM_000256.3(MYBPC3):c.1056C>G (p.Leu352=) rs375007425 0.00004
NM_000256.3(MYBPC3):c.1152C>T (p.Thr384=) rs775237084 0.00004
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu) rs773819168 0.00004
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg) rs373730381 0.00004
NM_000256.3(MYBPC3):c.*119C>A rs764758393 0.00003
NM_000256.3(MYBPC3):c.1021G>A (p.Gly341Ser) rs397515881 0.00003
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000256.3(MYBPC3):c.3191-7C>T rs373012629 0.00003
NM_000256.3(MYBPC3):c.3315C>A (p.Ala1105=) rs200372325 0.00003
NM_000256.3(MYBPC3):c.3741C>T (p.Asp1247=) rs543376073 0.00003
NM_000256.3(MYBPC3):c.852-14G>T rs751278539 0.00003
NM_000256.3(MYBPC3):c.927-10C>T rs201078659 0.00003
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) rs397515929 0.00002
NM_000256.3(MYBPC3):c.3097C>T (p.Arg1033Trp) rs748909815 0.00002
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His) rs376461745 0.00002
NM_000256.3(MYBPC3):c.*131T>C rs570058149 0.00001
NM_000256.3(MYBPC3):c.*293A>G rs886048365 0.00001
NM_000256.3(MYBPC3):c.1003C>T (p.Arg335Cys) rs730880630 0.00001
NM_000256.3(MYBPC3):c.1113G>A (p.Pro371=) rs886048380 0.00001
NM_000256.3(MYBPC3):c.1397T>A (p.Met466Lys) rs397515899 0.00001
NM_000256.3(MYBPC3):c.1638G>A (p.Glu546=) rs976630639 0.00001
NM_000256.3(MYBPC3):c.1899G>A (p.Glu633=) rs1206508060 0.00001
NM_000256.3(MYBPC3):c.2613C>T (p.Ser871=) rs531228202 0.00001
NM_000256.3(MYBPC3):c.2737+14C>A rs886048373 0.00001
NM_000256.3(MYBPC3):c.2771C>T (p.Thr924Ile) rs200406864 0.00001
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) rs367980215 0.00001
NM_000256.3(MYBPC3):c.283A>C (p.Ile95Leu) rs549758428 0.00001
NM_000256.3(MYBPC3):c.2938C>T (p.Arg980Cys) rs397515994 0.00001
NM_000256.3(MYBPC3):c.332C>T (p.Ala111Val) rs730880530 0.00001
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His) rs397516018 0.00001
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171 0.00001
NM_000256.3(MYBPC3):c.3810G>A (p.Val1270=) rs1255638075 0.00001
NM_000256.3(MYBPC3):c.3815-12C>T rs764320767 0.00001
NM_000256.3(MYBPC3):c.*116T>C rs886048367
NM_000256.3(MYBPC3):c.*163C>A rs886048366
NM_000256.3(MYBPC3):c.*212C>G rs2095874401
NM_000256.3(MYBPC3):c.*26+3A>G rs886048369
NM_000256.3(MYBPC3):c.*327C>A rs886048364
NM_000256.3(MYBPC3):c.*95G>T rs886048368
NM_000256.3(MYBPC3):c.-34T>A rs2095902050
NM_000256.3(MYBPC3):c.-5T>G rs886048383
NM_000256.3(MYBPC3):c.1458-9C>T rs886048379
NM_000256.3(MYBPC3):c.1624+13G>C rs397515913
NM_000256.3(MYBPC3):c.1822C>G (p.Pro608Ala) rs730880552
NM_000256.3(MYBPC3):c.1991G>T (p.Gly664Val) rs2095886397
NM_000256.3(MYBPC3):c.2077G>T (p.Ala693Ser) rs771753579
NM_000256.3(MYBPC3):c.2149-5C>A rs36211722
NM_000256.3(MYBPC3):c.2246A>G (p.Tyr749Cys) rs1464769206
NM_000256.3(MYBPC3):c.2346C>T (p.Asn782=) rs768638405
NM_000256.3(MYBPC3):c.2450G>T (p.Arg817Leu) rs397515964
NM_000256.3(MYBPC3):c.2603-4C>A rs886048377
NM_000256.3(MYBPC3):c.2603G>T (p.Gly868Val) rs886048376
NM_000256.3(MYBPC3):c.2622C>A (p.Thr874=) rs886048375
NM_000256.3(MYBPC3):c.2639A>C (p.Asp880Ala) rs886048374
NM_000256.3(MYBPC3):c.2892G>T (p.Val964=) rs886048372
NM_000256.3(MYBPC3):c.2901C>A (p.Ile967=) rs2095880876
NM_000256.3(MYBPC3):c.2905+7G>C rs886048371
NM_000256.3(MYBPC3):c.3301A>G (p.Thr1101Ala) rs2095878980
NM_000256.3(MYBPC3):c.3615G>C (p.Arg1205=) rs771292799
NM_000256.3(MYBPC3):c.3627+6G>T rs886048370
NM_000256.3(MYBPC3):c.3753T>C (p.Tyr1251=) rs397516039
NM_000256.3(MYBPC3):c.768C>A (p.Val256=) rs886048382
NM_000256.3(MYBPC3):c.927-7G>T rs886048381
NM_000256.3(MYBPC3):c.933G>C (p.Ser311=) rs374326087

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