ClinVar Miner

List of variants reported as uncertain significance for Cardiomyopathy by Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206 0.00069
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser) rs369941201 0.00032
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_001134363.3(RBM20):c.925G>A (p.Gly309Arg) rs397516625 0.00019
NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met) rs142534126 0.00019
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln) rs141801816 0.00017
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala) rs727503600 0.00012
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln) rs752144775 0.00008
NM_024334.3(TMEM43):c.286C>G (p.Arg96Gly) rs754797146 0.00008
NM_001267550.2(TTN):c.73994C>T (p.Thr24665Met) rs144398602 0.00007
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799 0.00004
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln) rs374263890 0.00004
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys) rs775594375 0.00004
NM_005477.3(HCN4):c.3262G>A (p.Ala1088Thr) rs1050326641 0.00004
NM_000219.6(KCNE1):c.293G>A (p.Arg98Gln) rs150454912 0.00003
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_001267550.2(TTN):c.89753T>C (p.Val29918Ala) rs768749427 0.00003
NM_000335.5(SCN5A):c.1588T>G (p.Phe530Val) rs199473120 0.00002
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys) rs121913012 0.00002
NM_000432.4(MYL2):c.142G>A (p.Asp48Asn) rs727504405 0.00001
NM_001103.4(ACTN2):c.1099A>G (p.Met367Val) rs771923322 0.00001
NM_001105206.3(LAMA4):c.2762C>A (p.Ser921Tyr) rs782424587 0.00001
NM_001134363.3(RBM20):c.3076G>A (p.Glu1026Lys) rs866975469 0.00001
NM_001267550.2(TTN):c.10067C>T (p.Thr3356Ile) rs763323132 0.00001
NM_001267550.2(TTN):c.69637C>T (p.Arg23213Cys) rs1335495074 0.00001
NM_001267550.2(TTN):c.9820A>C (p.Lys3274Gln) rs201696360 0.00001
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn) rs750607476 0.00001
NM_005477.3(HCN4):c.3304C>T (p.Arg1102Cys) rs760392343 0.00001
NM_007078.3(LDB3):c.1502C>T (p.Ala501Val) rs755362259 0.00001
NM_014000.3(VCL):c.2834T>C (p.Met945Thr) rs1443843519 0.00001
NM_144573.4(NEXN):c.421C>T (p.Arg141Cys) rs536537549 0.00001
NM_000117.3(EMD):c.352C>T (p.Arg118Cys) rs781847968
NM_000257.4(MYH7):c.1405G>T (p.Asp469Tyr) rs397516106
NM_000257.4(MYH7):c.2554A>T (p.Met852Leu) rs1595082558
NM_001035.3(RYR2):c.1601A>G (p.Tyr534Cys) rs1572409976
NM_001035.3(RYR2):c.49G>T (p.Asp17Tyr) rs370488091
NM_001035.3(RYR2):c.7774T>G (p.Leu2592Val) rs761019645
NM_001035.3(RYR2):c.8573TGGAGT[1] (p.Leu2860_Glu2861del) rs794728835
NM_001105206.3(LAMA4):c.5269C>T (p.Pro1757Ser) rs782001026
NM_001148.6(ANK2):c.9657T>G (p.Ser3219Arg) rs953435984
NM_001267550.2(TTN):c.51352T>C (p.Phe17118Leu) rs1161061741
NM_001267550.2(TTN):c.52254G>C (p.Trp17418Cys) rs536554790
NM_001267550.2(TTN):c.92099T>C (p.Phe30700Ser) rs746552047
NM_001267550.2(TTN):c.96812A>G (p.Glu32271Gly) rs1559120065
NM_017636.4(TRPM4):c.1039C>G (p.Leu347Val) rs1471303873
NM_032578.4(MYPN):c.3646A>G (p.Arg1216Gly) rs1589614570
NM_078470.6(COX15):c.694G>T (p.Val232Phe) rs1486568974

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