ClinVar Miner

List of variants reported by Dept of Medical Biology, Uskudar University

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ClinVar version:
Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala) rs2234916 0.00387
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_002070.4(GNAI2):c.302C>T (p.Ala101Val) rs112497464 0.00247
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) rs143326262 0.00181
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) rs142047577 0.00092
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val) rs139046510 0.00089
NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly) rs151021935 0.00082
NM_017636.4(TRPM4):c.2561A>G (p.Gln854Arg) rs172155862 0.00078
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) rs149253719 0.00078
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870 0.00076
NM_001148.6(ANK2):c.6206G>A (p.Arg2069His) rs149645600 0.00065
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr) rs140470576 0.00061
NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys) rs61757664 0.00055
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys) rs149963885 0.00052
NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn) rs144848998 0.00050
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706 0.00048
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) rs145044872 0.00046
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met) rs143709408 0.00036
NM_001232.4(CASQ2):c.874G>T (p.Ala292Ser) rs200643387 0.00033
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958 0.00029
NM_002471.4(MYH6):c.831G>T (p.Gln277His) rs140660481 0.00029
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_005751.5(AKAP9):c.9697C>T (p.Arg3233Cys) rs61757674 0.00026
NM_004281.4(BAG3):c.1240G>A (p.Glu414Lys) rs117749531 0.00024
NM_004982.4(KCNJ8):c.263C>G (p.Ala88Gly) rs117808169 0.00019
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_005751.5(AKAP9):c.10406C>T (p.Thr3469Met) rs746860114 0.00016
NM_001032283.3(TMPO):c.565+2376C>T rs202035749 0.00015
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00014
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr) rs77447750 0.00014
NM_005751.5(AKAP9):c.4190A>G (p.Gln1397Arg) rs139612565 0.00014
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn) rs199549660 0.00013
NM_002471.4(MYH6):c.3893C>T (p.Ala1298Val) rs368588052 0.00012
NM_005472.5(KCNE3):c.26C>T (p.Thr9Ile) rs139040374 0.00012
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_017636.4(TRPM4):c.2289C>G (p.Cys763Trp) rs200760537 0.00011
NM_002471.4(MYH6):c.4264C>T (p.Arg1422Trp) rs200465713 0.00010
NM_002471.4(MYH6):c.2591C>T (p.Thr864Met) rs200153625 0.00008
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322 0.00007
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile) rs147750704 0.00007
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn) rs184709702 0.00006
NM_002471.4(MYH6):c.5491G>A (p.Glu1831Lys) rs367834703 0.00006
NM_005751.5(AKAP9):c.5468A>T (p.Gln1823Leu) rs147772200 0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_003098.3(SNTA1):c.1015C>T (p.Arg339Cys) rs138164106 0.00005
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys) rs193922708 0.00005
NM_001040151.2(SCN3B):c.199G>A (p.Glu67Lys) rs140381249 0.00004
NM_001148.6(ANK2):c.5758G>A (p.Gly1920Arg) rs140189724 0.00004
NM_003098.3(SNTA1):c.1180C>T (p.Arg394Cys) rs567451585 0.00004
NM_005477.3(HCN4):c.3263C>T (p.Ala1088Val) rs758484576 0.00004
NM_000238.4(KCNH2):c.3365C>T (p.Pro1122Leu) rs531460655 0.00003
NM_004387.4(NKX2-5):c.809G>A (p.Cys270Tyr) rs587782931 0.00003
NM_005472.5(KCNE3):c.304A>G (p.Met102Val) rs556647231 0.00003
NM_014000.3(VCL):c.2006G>A (p.Arg669Gln) rs759771302 0.00003
NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) rs200108320 0.00002
NM_000238.4(KCNH2):c.656A>T (p.Asp219Val) rs587777907 0.00002
NM_004415.4(DSP):c.6269A>G (p.Glu2090Gly) rs755069593 0.00002
NM_005751.5(AKAP9):c.3736A>G (p.Arg1246Gly) rs779232513 0.00002
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val) rs199472763 0.00001
NM_000218.3(KCNQ1):c.1598G>A (p.Arg533Gln) rs574321120 0.00001
NM_000218.3(KCNQ1):c.477+1G>A rs762814879 0.00001
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn) rs199472702 0.00001
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His) rs120074196 0.00001
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly) rs373164247 0.00001
NM_000256.3(MYBPC3):c.355G>A (p.Glu119Lys) rs397516025 0.00001
NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln) rs397516195 0.00001
NM_000540.3(RYR1):c.5020G>A (p.Ala1674Thr) rs1460141666 0.00001
NM_001032283.3(TMPO):c.565+1662T>G rs200367787 0.00001
NM_001035.3(RYR2):c.1346T>G (p.Ile449Arg) rs373331669 0.00001
NM_001035.3(RYR2):c.5751G>T (p.Gln1917His) rs1259517167 0.00001
NM_001134363.3(RBM20):c.776G>T (p.Gly259Val) rs940901720 0.00001
NM_001943.5(DSG2):c.1814A>T (p.Asp605Val) rs761157959 0.00001
NM_002230.4(JUP):c.406G>A (p.Asp136Asn) rs782392706 0.00001
NM_004281.4(BAG3):c.1571T>C (p.Ile524Thr) rs752390475 0.00001
NM_004415.4(DSP):c.4735C>T (p.Arg1579Trp) rs755868373 0.00001
NM_007078.3(LDB3):c.742G>A (p.Ala248Thr) rs369419493 0.00001
NM_000069.3(CACNA1S):c.1478T>C (p.Met493Thr) rs1411108885
NM_000069.3(CACNA1S):c.3080A>T (p.Asn1027Ile)
NM_000069.3(CACNA1S):c.5244del (p.Ser1749fs)
NM_000218.3(KCNQ1):c.*19G>A
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs) rs397508083
NM_000218.3(KCNQ1):c.1579A>G (p.Lys527Glu)
NM_000218.3(KCNQ1):c.1685G>T (p.Arg562Met) rs199472802
NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His) rs199472814
NM_000218.3(KCNQ1):c.467T>C (p.Leu156Pro) rs1589931156
NM_000218.3(KCNQ1):c.817C>A (p.Leu273Ile)
NM_000218.3(KCNQ1):c.821TCT[1] (p.Phe275del) rs397508126
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser) rs120074184
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg) rs199472756
NM_000238.4(KCNH2):c.1694C>G (p.Ala565Gly)
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter) rs189014161
NM_000256.3(MYBPC3):c.839_840del (p.Gly280fs)
NM_000257.4(MYH7):c.1891A>G (p.Ile631Val)
NM_000257.4(MYH7):c.3746G>A (p.Cys1249Tyr)
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000334.4(SCN4A):c.4645G>A (p.Gly1549Arg) rs748122664
NM_000334.4(SCN4A):c.5434C>T (p.Pro1812Ser)
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.5(SCN5A):c.2837A>C (p.Asn946Thr)
NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) rs397514251
NM_000540.3(RYR1):c.1354G>A (p.Glu452Lys)
NM_000540.3(RYR1):c.7880T>G (p.Val2627Gly) rs747337318
NM_000719.7(CACNA1C):c.3061T>C (p.Cys1021Arg) rs1057518301
NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly) rs794727587
NM_000722.4(CACNA2D1):c.231G>T (p.Gln77His)
NM_000891.3(KCNJ2):c.97G>C (p.Gly33Arg) rs375727662
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001032283.3(TMPO):c.1042A>G (p.Met348Val)
NM_001035.3(RYR2):c.355A>G (p.Ile119Val) rs1477582479
NM_001035.3(RYR2):c.4093G>A (p.Ala1365Thr) rs1159247790
NM_001035.3(RYR2):c.5042A>G (p.Asp1681Gly)
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys) rs794728740
NM_001035.3(RYR2):c.8048C>T (p.Ser2683Leu) rs776621043
NM_001035.3(RYR2):c.9392A>G (p.Tyr3131Cys) rs1342384519
NM_001134363.3(RBM20):c.2390A>T (p.His797Leu)
NM_001134363.3(RBM20):c.2715G>A (p.Met905Ile)
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter) rs397507556
NM_001377540.1(SLMAP):c.1431C>G (p.Asp477Glu)
NM_001377540.1(SLMAP):c.436_441del (p.Leu146_Pro147del)
NM_001743.6(CALM2):c.-9G>C
NM_001743.6(CALM2):c.293A>G (p.Asn98Ser) rs398124647
NM_001943.5(DSG2):c.2750del (p.Ala917fs)
NM_002230.4(JUP):c.2154G>A (p.Met718Ile)
NM_002471.4(MYH6):c.1962+2T>C
NM_003239.5(TGFB3):c.860G>A (p.Arg287Gln)
NM_003239.5(TGFB3):c.911C>A (p.Thr304Asn)
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_004281.4(BAG3):c.1678T>A (p.Ser560Thr)
NM_005751.5(AKAP9):c.1361G>A (p.Arg454Lys)
NM_005751.5(AKAP9):c.7115T>C (p.Met2372Thr)
NM_005751.5(AKAP9):c.9117T>G (p.Ser3039Arg)
NM_005751.5(AKAP9):c.9578+4_9578+5del
NM_007078.3(LDB3):c.1468T>C (p.Trp490Arg) rs1589675054
NM_007078.3(LDB3):c.1475C>A (p.Thr492Lys)
NM_013266.4(CTNNA3):c.160del (p.Arg54fs)
NM_015141.4(GPD1L):c.680C>T (p.Ala227Val) rs980532320
NM_017636.4(TRPM4):c.2665del (p.His889fs) rs777047595
NM_017636.4(TRPM4):c.3167T>C (p.Leu1056Pro)
NM_017636.4(TRPM4):c.3224T>G (p.Leu1075Arg) rs144421653
NM_017636.4(TRPM4):c.3337C>G (p.Leu1113Val) rs780954126
NM_024422.6(DSC2):c.1976C>T (p.Ser659Phe)
NM_130797.4(DPP6):c.1249G>A (p.Val417Ile)
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093

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