ClinVar Miner

List of variants in gene MYCBP2 reported by GeneDx

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Gene type:
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Total variants: 173
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HGVS dbSNP gnomAD frequency
NM_015057.5(MYCBP2):c.11506A>G (p.Ile3836Val) rs762960584 0.00001
NM_015057.5(MYCBP2):c.12125A>T (p.Asp4042Val) rs767010977 0.00001
NM_015057.5(MYCBP2):c.13627G>A (p.Val4543Met) rs567496054 0.00001
NM_015057.5(MYCBP2):c.4549A>G (p.Met1517Val) rs1490199600 0.00001
NM_015057.5(MYCBP2):c.6041G>A (p.Cys2014Tyr) rs1236976781 0.00001
NM_015057.5(MYCBP2):c.6565G>A (p.Asp2189Asn) rs2548922268 0.00001
NM_015057.5(MYCBP2):c.1000A>G (p.Lys334Glu) rs2549595632
NM_015057.5(MYCBP2):c.10012A>C (p.Met3338Leu)
NM_015057.5(MYCBP2):c.10142G>T (p.Gly3381Val) rs2503484041
NM_015057.5(MYCBP2):c.10160C>A (p.Pro3387His)
NM_015057.5(MYCBP2):c.10336C>T (p.Pro3446Ser)
NM_015057.5(MYCBP2):c.10444T>C (p.Ser3482Pro)
NM_015057.5(MYCBP2):c.10496C>G (p.Pro3499Arg)
NM_015057.5(MYCBP2):c.10610G>T (p.Arg3537Leu)
NM_015057.5(MYCBP2):c.10830_10838del (p.Glu3610_Glu3612del)
NM_015057.5(MYCBP2):c.10923T>G (p.Ile3641Met) rs2503057776
NM_015057.5(MYCBP2):c.10936G>A (p.Ala3646Thr)
NM_015057.5(MYCBP2):c.11007C>A (p.Ser3669Arg) rs141958299
NM_015057.5(MYCBP2):c.11042G>A (p.Trp3681Ter) rs2503009517
NM_015057.5(MYCBP2):c.11069A>G (p.His3690Arg)
NM_015057.5(MYCBP2):c.11210T>C (p.Met3737Thr) rs2502993972
NM_015057.5(MYCBP2):c.11288G>A (p.Gly3763Asp)
NM_015057.5(MYCBP2):c.11308G>A (p.Glu3770Lys)
NM_015057.5(MYCBP2):c.11368A>G (p.Ile3790Val)
NM_015057.5(MYCBP2):c.11371A>G (p.Asn3791Asp)
NM_015057.5(MYCBP2):c.11383G>A (p.Val3795Met)
NM_015057.5(MYCBP2):c.11408G>A (p.Arg3803Gln)
NM_015057.5(MYCBP2):c.11449G>T (p.Gly3817Cys)
NM_015057.5(MYCBP2):c.11498C>G (p.Ser3833Cys)
NM_015057.5(MYCBP2):c.11540del (p.Asp3847fs) rs2502797155
NM_015057.5(MYCBP2):c.11588G>A (p.Arg3863Lys)
NM_015057.5(MYCBP2):c.11824-17del rs71749271
NM_015057.5(MYCBP2):c.11855T>C (p.Met3952Thr)
NM_015057.5(MYCBP2):c.11861G>A (p.Gly3954Glu)
NM_015057.5(MYCBP2):c.11896C>G (p.Gln3966Glu)
NM_015057.5(MYCBP2):c.12100G>T (p.Ala4034Ser)
NM_015057.5(MYCBP2):c.12134C>T (p.Ser4045Leu)
NM_015057.5(MYCBP2):c.12211C>T (p.Pro4071Ser)
NM_015057.5(MYCBP2):c.12259G>A (p.Asp4087Asn)
NM_015057.5(MYCBP2):c.12307C>G (p.Leu4103Val) rs2502375551
NM_015057.5(MYCBP2):c.12329T>C (p.Leu4110Pro)
NM_015057.5(MYCBP2):c.12452C>T (p.Ser4151Phe) rs2502374985
NM_015057.5(MYCBP2):c.12463C>T (p.Arg4155Ter)
NM_015057.5(MYCBP2):c.12513C>G (p.Ile4171Met)
NM_015057.5(MYCBP2):c.12520A>G (p.Ile4174Val)
NM_015057.5(MYCBP2):c.1260+56del rs149334563
NM_015057.5(MYCBP2):c.12649G>C (p.Val4217Leu)
NM_015057.5(MYCBP2):c.12776C>G (p.Pro4259Arg) rs1428240360
NM_015057.5(MYCBP2):c.12875A>G (p.His4292Arg) rs2502126927
NM_015057.5(MYCBP2):c.13060G>A (p.Glu4354Lys) rs2502037523
NM_015057.5(MYCBP2):c.1307T>G (p.Ile436Arg)
NM_015057.5(MYCBP2):c.13318C>G (p.Pro4440Ala)
NM_015057.5(MYCBP2):c.1335A>C (p.Gln445His)
NM_015057.5(MYCBP2):c.13360T>G (p.Cys4454Gly)
NM_015057.5(MYCBP2):c.13369C>T (p.Arg4457Ter) rs765649534
NM_015057.5(MYCBP2):c.13483A>G (p.Lys4495Glu)
NM_015057.5(MYCBP2):c.13528G>T (p.Glu4510Ter)
NM_015057.5(MYCBP2):c.13597G>T (p.Gly4533Cys)
NM_015057.5(MYCBP2):c.1363C>T (p.His455Tyr)
NM_015057.5(MYCBP2):c.13669C>T (p.Arg4557Cys)
NM_015057.5(MYCBP2):c.13827_13828del (p.Phe4609fs) rs2501616924
NM_015057.5(MYCBP2):c.13889T>C (p.Ile4630Thr)
NM_015057.5(MYCBP2):c.1522G>T (p.Ala508Ser)
NM_015057.5(MYCBP2):c.1583A>G (p.Asp528Gly)
NM_015057.5(MYCBP2):c.1612C>T (p.Arg538Ter)
NM_015057.5(MYCBP2):c.1745T>C (p.Ile582Thr)
NM_015057.5(MYCBP2):c.1885C>G (p.Pro629Ala)
NM_015057.5(MYCBP2):c.1896A>G (p.Ile632Met) rs1398599606
NM_015057.5(MYCBP2):c.1957A>G (p.Ile653Val)
NM_015057.5(MYCBP2):c.1974A>C (p.Glu658Asp) rs749932287
NM_015057.5(MYCBP2):c.2017_2017+12delinsC rs2549560766
NM_015057.5(MYCBP2):c.2174A>G (p.Lys725Arg)
NM_015057.5(MYCBP2):c.2176G>A (p.Gly726Arg)
NM_015057.5(MYCBP2):c.2341A>G (p.Ser781Gly) rs2549520337
NM_015057.5(MYCBP2):c.2392T>G (p.Cys798Gly) rs2549476569
NM_015057.5(MYCBP2):c.2407T>G (p.Ser803Ala)
NM_015057.5(MYCBP2):c.2501A>C (p.Glu834Ala)
NM_015057.5(MYCBP2):c.2630-2A>C rs373873724
NM_015057.5(MYCBP2):c.2630G>C (p.Gly877Ala) rs2067376410
NM_015057.5(MYCBP2):c.2734A>G (p.Lys912Glu)
NM_015057.5(MYCBP2):c.2803C>T (p.Arg935Ter)
NM_015057.5(MYCBP2):c.2812T>G (p.Cys938Gly)
NM_015057.5(MYCBP2):c.2852A>G (p.His951Arg)
NM_015057.5(MYCBP2):c.2887A>G (p.Thr963Ala)
NM_015057.5(MYCBP2):c.3116C>G (p.Pro1039Arg)
NM_015057.5(MYCBP2):c.3223C>T (p.Leu1075Phe)
NM_015057.5(MYCBP2):c.3255C>G (p.His1085Gln) rs2064079546
NM_015057.5(MYCBP2):c.3476_3479dup (p.Ala1162fs) rs2549260162
NM_015057.5(MYCBP2):c.347A>G (p.Lys116Arg) rs768441476
NM_015057.5(MYCBP2):c.3698T>G (p.Val1233Gly)
NM_015057.5(MYCBP2):c.3793G>C (p.Gly1265Arg) rs2549248716
NM_015057.5(MYCBP2):c.3802G>C (p.Gly1268Arg) rs2549248695
NM_015057.5(MYCBP2):c.3862G>C (p.Asp1288His) rs2549162478
NM_015057.5(MYCBP2):c.3932C>G (p.Ala1311Gly)
NM_015057.5(MYCBP2):c.3949ATG[1] (p.Met1318del)
NM_015057.5(MYCBP2):c.3957T>G (p.Phe1319Leu)
NM_015057.5(MYCBP2):c.4064A>C (p.Asp1355Ala)
NM_015057.5(MYCBP2):c.4169A>T (p.Asp1390Val)
NM_015057.5(MYCBP2):c.4202G>A (p.Ser1401Asn)
NM_015057.5(MYCBP2):c.4225A>G (p.Arg1409Gly) rs2549131327
NM_015057.5(MYCBP2):c.433C>A (p.Pro145Thr)
NM_015057.5(MYCBP2):c.4364A>G (p.Asp1455Gly)
NM_015057.5(MYCBP2):c.4559T>C (p.Leu1520Ser)
NM_015057.5(MYCBP2):c.4594T>G (p.Leu1532Val)
NM_015057.5(MYCBP2):c.4796C>T (p.Ser1599Phe)
NM_015057.5(MYCBP2):c.4942-2A>C
NM_015057.5(MYCBP2):c.5054C>T (p.Ser1685Phe)
NM_015057.5(MYCBP2):c.5201G>A (p.Gly1734Asp) rs1421095714
NM_015057.5(MYCBP2):c.5207G>A (p.Ser1736Asn)
NM_015057.5(MYCBP2):c.5282T>C (p.Phe1761Ser) rs2549052380
NM_015057.5(MYCBP2):c.532A>G (p.Ser178Gly)
NM_015057.5(MYCBP2):c.5332G>C (p.Val1778Leu)
NM_015057.5(MYCBP2):c.5357A>G (p.Asp1786Gly) rs2549043159
NM_015057.5(MYCBP2):c.5361_5369del (p.Thr1788_Ser1790del)
NM_015057.5(MYCBP2):c.5416G>A (p.Asp1806Asn)
NM_015057.5(MYCBP2):c.5491G>A (p.Val1831Met)
NM_015057.5(MYCBP2):c.5539A>T (p.Met1847Leu)
NM_015057.5(MYCBP2):c.5605G>A (p.Gly1869Ser)
NM_015057.5(MYCBP2):c.5677T>G (p.Ser1893Ala)
NM_015057.5(MYCBP2):c.5689A>G (p.Ser1897Gly)
NM_015057.5(MYCBP2):c.5708A>G (p.Asp1903Gly)
NM_015057.5(MYCBP2):c.5752C>T (p.Arg1918Ter) rs745564444
NM_015057.5(MYCBP2):c.5853TAT[1] (p.Ile1953del) rs2548984946
NM_015057.5(MYCBP2):c.5884G>A (p.Ala1962Thr)
NM_015057.5(MYCBP2):c.594+1G>C
NM_015057.5(MYCBP2):c.6037G>A (p.Ala2013Thr)
NM_015057.5(MYCBP2):c.6458A>T (p.Glu2153Val) rs2548947993
NM_015057.5(MYCBP2):c.6502G>A (p.Val2168Ile)
NM_015057.5(MYCBP2):c.6521T>C (p.Met2174Thr)
NM_015057.5(MYCBP2):c.6530A>G (p.Asp2177Gly) rs2548941031
NM_015057.5(MYCBP2):c.6552T>G (p.Asn2184Lys) rs2548922284
NM_015057.5(MYCBP2):c.6558AGA[2] (p.Glu2188del) rs756225222
NM_015057.5(MYCBP2):c.656C>T (p.Pro219Leu)
NM_015057.5(MYCBP2):c.6717dup (p.Leu2240fs) rs2548895603
NM_015057.5(MYCBP2):c.6736T>A (p.Cys2246Ser)
NM_015057.5(MYCBP2):c.6754G>A (p.Gly2252Ser)
NM_015057.5(MYCBP2):c.679C>T (p.Gln227Ter) rs2549627146
NM_015057.5(MYCBP2):c.6829G>A (p.Asp2277Asn)
NM_015057.5(MYCBP2):c.6925A>T (p.Lys2309Ter) rs763507470
NM_015057.5(MYCBP2):c.693C>G (p.Asn231Lys)
NM_015057.5(MYCBP2):c.7188-2A>G
NM_015057.5(MYCBP2):c.7205T>C (p.Leu2402Pro)
NM_015057.5(MYCBP2):c.7401G>A (p.Lys2467=) rs2548779642
NM_015057.5(MYCBP2):c.7448G>A (p.Ser2483Asn) rs2548772692
NM_015057.5(MYCBP2):c.748+2_748+3del rs2549627072
NM_015057.5(MYCBP2):c.7660-2A>G rs2548661853
NM_015057.5(MYCBP2):c.7816T>A (p.Cys2606Ser)
NM_015057.5(MYCBP2):c.7823A>G (p.Asn2608Ser)
NM_015057.5(MYCBP2):c.7918G>C (p.Asp2640His)
NM_015057.5(MYCBP2):c.8146C>T (p.Arg2716Ter)
NM_015057.5(MYCBP2):c.8209A>C (p.Lys2737Gln) rs2503555149
NM_015057.5(MYCBP2):c.8216G>T (p.Ser2739Ile)
NM_015057.5(MYCBP2):c.832T>G (p.Ser278Ala)
NM_015057.5(MYCBP2):c.8333A>C (p.Lys2778Thr)
NM_015057.5(MYCBP2):c.8375A>G (p.His2792Arg)
NM_015057.5(MYCBP2):c.8491A>G (p.Arg2831Gly)
NM_015057.5(MYCBP2):c.8501C>T (p.Pro2834Leu)
NM_015057.5(MYCBP2):c.8867_8868insG (p.Phe2957fs)
NM_015057.5(MYCBP2):c.9145A>G (p.Met3049Val)
NM_015057.5(MYCBP2):c.9167A>G (p.Lys3056Arg)
NM_015057.5(MYCBP2):c.9175C>G (p.Pro3059Ala) rs758700342
NM_015057.5(MYCBP2):c.9250A>G (p.Lys3084Glu)
NM_015057.5(MYCBP2):c.9334A>C (p.Met3112Leu)
NM_015057.5(MYCBP2):c.9353A>G (p.Asn3118Ser)
NM_015057.5(MYCBP2):c.9364T>C (p.Ser3122Pro) rs2503549682
NM_015057.5(MYCBP2):c.9432G>A (p.Met3144Ile) rs2503549330
NM_015057.5(MYCBP2):c.9466C>T (p.Leu3156Phe)
NM_015057.5(MYCBP2):c.9533C>A (p.Ala3178Asp)
NM_015057.5(MYCBP2):c.973A>G (p.Arg325Gly)
NM_015057.5(MYCBP2):c.9784+3A>G
NM_015057.5(MYCBP2):c.9896T>G (p.Val3299Gly) rs2503513184
NM_015057.5(MYCBP2):c.9929A>G (p.Glu3310Gly) rs2503513012
NM_015057.5(MYCBP2):c.9952A>G (p.Lys3318Glu)

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