ClinVar Miner

List of variants reported as uncertain significance by Institute of Human Genetics, University of Wuerzburg

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 242
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HGVS dbSNP gnomAD frequency
NM_030973.4(MED25):c.2088G>A (p.Leu696=) rs371157406 0.00252
NM_001283009.2(RTEL1):c.3423G>A (p.Pro1141=) rs41306796 0.00207
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_014855.3(AP5Z1):c.1312-19C>T rs186277796 0.00073
NM_001378183.1(PIEZO2):c.8535A>G (p.Lys2845=) rs149395405 0.00042
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340 0.00026
NM_018706.7(DHTKD1):c.847A>G (p.Met283Val) rs145337285 0.00021
NM_001204.7(BMPR2):c.-93A>G rs147936167 0.00019
NM_001385875.1(ZFYVE27):c.415C>T (p.Arg139Cys) rs369972013 0.00011
NM_021076.4(NEFH):c.1208+8G>A rs117036372 0.00009
NM_000478.6(ALPL):c.-176C>T rs990367929 0.00007
NM_003906.5(MCM3AP):c.2902G>A (p.Gly968Arg) rs147515617 0.00006
NM_000540.3(RYR1):c.396C>T (p.Phe132=) rs376494617 0.00005
NM_015295.3(SMCHD1):c.3802-12T>C rs199707863 0.00005
NM_000023.4(SGCA):c.467G>A (p.Arg156His) rs558473298 0.00004
NM_000540.3(RYR1):c.10520C>T (p.Thr3507Met) rs371839408 0.00004
NM_005477.3(HCN4):c.2266G>A (p.Ala756Thr) rs143339036 0.00004
NM_005609.4(PYGM):c.929G>A (p.Arg310His) rs759130375 0.00004
NM_015978.3(TNNI3K):c.500T>C (p.Phe167Ser) rs201917013 0.00004
NM_198994.3(TGM6):c.691C>T (p.Arg231Ter) rs201338900 0.00004
NM_004260.4(RECQL4):c.3237-20T>G rs780188311 0.00003
NM_006790.3(MYOT):c.1046C>T (p.Pro349Leu) rs1288405198 0.00003
NM_021076.4(NEFH):c.1684C>G (p.Pro562Ala) rs530872313 0.00003
NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile) rs146202502 0.00002
NM_000257.4(MYH7):c.3866G>A (p.Arg1289Gln) rs1287612987 0.00001
NM_000257.4(MYH7):c.732+14G>C rs762982193 0.00001
NM_000478.6(ALPL):c.*7A>G rs753716865 0.00001
NM_000478.6(ALPL):c.1078G>A (p.Gly360Arg) rs749989499 0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) rs766656419 0.00001
NM_000478.6(ALPL):c.1462G>A (p.Ala488Thr) rs1570310172 0.00001
NM_000478.6(ALPL):c.530C>T (p.Ala177Val) rs1114167438 0.00001
NM_000540.3(RYR1):c.15088C>T (p.Arg5030Cys) rs374070555 0.00001
NM_000814.6(GABRB3):c.847G>A (p.Val283Met) rs1595440460 0.00001
NM_001134363.3(RBM20):c.686A>G (p.Tyr229Cys) rs1478721868 0.00001
NM_001278064.2(GRM1):c.951-6T>A rs758215901 0.00001
NM_001376.5(DYNC1H1):c.2539-10C>A rs1372571783 0.00001
NM_001458.5(FLNC):c.352+3C>T rs750255204 0.00001
NM_001458.5(FLNC):c.7280C>T (p.Ala2427Val) rs1343869103 0.00001
NM_001830.4(CLCN4):c.2000G>A (p.Gly667Asp) rs953773970 0.00001
NM_002161.6(IARS1):c.1953T>G (p.Asp651Glu) rs79845272 0.00001
NM_004281.4(BAG3):c.775C>T (p.Pro259Ser) rs375687199 0.00001
NM_004369.4(COL6A3):c.6127C>T (p.Arg2043Cys) rs1001689383 0.00001
NM_006158.5(NEFL):c.1459G>A (p.Glu487Lys) rs558065942 0.00001
NM_014846.4(WASHC5):c.2199G>A (p.Lys733=) rs1244780710 0.00001
NM_014846.4(WASHC5):c.864+5G>C rs772529893 0.00001
NM_015295.3(SMCHD1):c.4452G>C (p.Leu1484=) rs373559293 0.00001
NM_015295.3(SMCHD1):c.4517G>A (p.Arg1506His) rs756166672 0.00001
NM_017617.5(NOTCH1):c.2910C>T (p.Thr970=) rs1483422675 0.00001
NM_018972.4(GDAP1):c.311-15G>A rs373622064 0.00001
NM_030973.4(MED25):c.1086C>T (p.Pro362=) rs780086993 0.00001
NM_145046.5(CALR3):c.961G>A (p.Asp321Asn) rs143334090 0.00001
NM_213599.3(ANO5):c.1362G>A (p.Thr454=) rs747933251 0.00001
NM_213599.3(ANO5):c.754C>T (p.Leu252Phe) rs1159326828 0.00001
NC_000001.11:g.156115286C>T
NC_000017.11:g.45982995A>G
NC_000019.10:g.38455669G>A
NM_000023.4(SGCA):c.956+14T>C
NM_000023.4(SGCA):c.983+1G>C
NM_000051.4(ATM):c.2075G>T (p.Arg692Leu) rs751515818
NM_000059.4(BRCA2):c.673ACT[1] (p.Thr226del) rs1566220661
NM_000062.3(SERPING1):c.1249+5G>C rs1590829846
NM_000062.3(SERPING1):c.369C>G (p.Cys123Trp) rs1465637711
NM_000070.3(CAPN3):c.2306G>T (p.Arg769Leu)
NM_000093.5(COL5A1):c.5391G>C (p.Lys1797Asn) rs2132942992
NM_000138.5(FBN1):c.6943A>G (p.Thr2315Ala) rs1597518834
NM_000152.5(GAA):c.1755-4C>T
NM_000231.3(SGCG):c.164T>G (p.Ile55Ser) rs1267509253
NM_000231.3(SGCG):c.95G>A (p.Arg32Lys)
NM_000256.3(MYBPC3):c.2533C>G (p.Arg845Gly) rs727504345
NM_000256.3(MYBPC3):c.3622C>T (p.Pro1208Ser) rs2142849872
NM_000256.3(MYBPC3):c.407-9T>G rs2142868275
NM_000257.4(MYH7):c.1565A>T (p.Asp522Val) rs1595086146
NM_000257.4(MYH7):c.3062C>G (p.Thr1021Ser)
NM_000257.4(MYH7):c.3112C>G (p.Leu1038Val)
NM_000257.4(MYH7):c.3223C>G (p.Gln1075Glu)
NM_000257.4(MYH7):c.5735T>A (p.Ile1912Asn) rs1595070419
NM_000257.4(MYH7):c.674C>T (p.Pro225Leu) rs1595089491
NM_000260.4(MYO7A):c.2165G>T (p.Gly722Val)
NM_000264.5(PTCH1):c.3836_3837del (p.Pro1279fs) rs1564006281
NM_000302.4(PLOD1):c.2060G>A (p.Cys687Tyr) rs2100768765
NM_000399.5(EGR2):c.152T>C (p.Met51Thr) rs1236681093
NM_000426.4(LAMA2):c.2755C>G (p.Arg919Gly)
NM_000474.4(TWIST1):c.379G>A (p.Ala127Thr) rs1585617064
NM_000474.4(TWIST1):c.398_399delinsTT (p.Lys133Ile) rs1585617012
NM_000478.6(ALPL):c.1207A>T (p.Ser403Cys) rs1216428237
NM_000478.6(ALPL):c.1309+13G>A rs1397669293
NM_000478.6(ALPL):c.472+5G>C rs1558549099
NM_000478.6(ALPL):c.793-10T>C rs1114167436
NM_000520.6(HEXA):c.875C>T (p.Pro292Leu) rs2140323013
NM_000540.3(RYR1):c.11531A>T (p.Asn3844Ile)
NM_001003694.2(BRPF1):c.1825C>T (p.Arg609Cys) rs2077027454
NM_001005361.3(DNM2):c.1336-4C>G rs2146038746
NM_001009944.3(PKD1):c.1827G>A (p.Val609=) rs905577227
NM_001009999.3(KDM1A):c.2345G>A (p.Arg782Gln) rs1569834441
NM_001018005.2(TPM1):c.674T>C (p.Ile225Thr)
NM_001032221.6(STXBP1):c.1316TCA[1] (p.Ile440del) rs1841769844
NM_001032221.6(STXBP1):c.808G>A (p.Gly270Ser)
NM_001035.3(RYR2):c.1172C>T (p.Ala391Val)
NM_001035.3(RYR2):c.2026G>A (p.Glu676Lys) rs1572596015
NM_001042492.3(NF1):c.2800_2802del (p.Phe934del) rs1567849174
NM_001042492.3(NF1):c.989C>A (p.Ala330Glu) rs1555610898
NM_001083961.2(WDR62):c.4283T>C (p.Phe1428Ser) rs1599851829
NM_001105206.3(LAMA4):c.3343T>C (p.Phe1115Leu) rs1459931996
NM_001127208.3(TET2):c.2196del (p.Ser733fs)
NM_001127222.2(CACNA1A):c.6689A>G (p.Gln2230Arg) rs936533797
NM_001130987.2(DYSF):c.1432A>G (p.Ile478Val) rs1573808717
NM_001130987.2(DYSF):c.3341G>T (p.Arg1114Leu)
NM_001130987.2(DYSF):c.3792A>G (p.Gln1264=) rs762041312
NM_001130987.2(DYSF):c.6021G>T (p.Trp2007Cys)
NM_001134363.3(RBM20):c.164A>G (p.Gln55Arg)
NM_001159699.2(FHL1):c.549G>C (p.Lys183Asn) rs1603271767
NM_001160148.2(DDHD1):c.2662G>T (p.Glu888Ter)
NM_001161352.2(KCNMA1):c.3619C>A (p.His1207Asn) rs1476399505
NM_001267550.2(TTN):c.22556_22558dup (p.Ile7519_Lys7520insIle) rs2154301633
NM_001267550.2(TTN):c.36376T>G (p.Ser12126Ala)
NM_001276345.2(TNNT2):c.651G>C (p.Lys217Asn) rs1571605501
NM_001277115.2(DNAH11):c.12179T>G (p.Leu4060Arg)
NM_001277115.2(DNAH11):c.12887T>A (p.Ile4296Asn)
NM_001303256.3(MORC2):c.677C>A (p.Ala226Glu)
NM_001330.5(CTF1):c.465dup (p.Ala156fs) rs1218236539
NM_001365951.3(KIF1B):c.4171-17A>G
NM_001372044.2(SHANK3):c.2062G>C (p.Val688Leu) rs1262141039
NM_001376.5(DYNC1H1):c.4453C>A (p.Arg1485Ser)
NM_001376.5(DYNC1H1):c.4591A>G (p.Met1531Val)
NM_001376.5(DYNC1H1):c.659G>A (p.Cys220Tyr)
NM_001378183.1(PIEZO2):c.6653C>G (p.Pro2218Arg) rs1567961103
NM_001378452.1(ITPR1):c.4127A>T (p.Asp1376Val) rs955458642
NM_001378457.1(DMXL2):c.8362G>A (p.Val2788Ile)
NM_001457.4(FLNB):c.364T>G (p.Ser122Ala) rs2106946532
NM_001458.5(FLNC):c.1325C>G (p.Pro442Arg) rs1554397822
NM_001458.5(FLNC):c.308C>A (p.Ala103Asp)
NM_001458.5(FLNC):c.3275_3278delinsAAGA (p.Thr1092_Gly1093delinsLysAsp) rs1585159928
NM_001458.5(FLNC):c.4192A>G (p.Lys1398Glu) rs1585162066
NM_001458.5(FLNC):c.4345T>C (p.Ser1449Pro)
NM_001458.5(FLNC):c.4425G>T (p.Ala1475=)
NM_001458.5(FLNC):c.6429G>T (p.Gln2143His)
NM_001848.3(COL6A1):c.340A>C (p.Lys114Gln)
NM_001848.3(COL6A1):c.805-11_805-5del
NM_001849.4(COL6A2):c.2961G>C (p.Thr987=) rs149845431
NM_001854.4(COL11A1):c.4268G>T (p.Gly1423Val)
NM_001927.4(DES):c.-2C>T
NM_002047.4(GARS1):c.1625T>C (p.Ile542Thr)
NM_002109.6(HARS1):c.1458+11T>C rs1758248684
NM_002471.4(MYH6):c.2419G>C (p.Val807Leu)
NM_002693.3(POLG):c.2982G>C (p.Trp994Cys) rs1596350885
NM_002972.4(SBF1):c.3740C>G (p.Ala1247Gly) rs778716220
NM_002972.4(SBF1):c.5470C>T (p.Arg1824Cys) rs547807779
NM_003119.4(SPG7):c.1779+5G>C rs1567931957
NM_003283.6(TNNT1):c.310-5C>A rs778964412
NM_003560.4(PLA2G6):c.2165T>C (p.Phe722Ser) rs1602056683
NM_003560.4(PLA2G6):c.641A>G (p.Asn214Ser) rs1602161812
NM_003906.5(MCM3AP):c.10A>C (p.Thr4Pro) rs148481230
NM_004006.3(DMD):c.3603G>A (p.Lys1201=) rs1265370991
NM_004006.3(DMD):c.4883T>C (p.Leu1628Pro) rs2147260898
NM_004082.5(DCTN1):c.3711G>A (p.Glu1237=)
NM_004208.4(AIFM1):c.511A>C (p.Met171Leu)
NM_004360.5(CDH1):c.1489G>A (p.Glu497Lys) rs1567508990
NM_004369.4(COL6A3):c.7029+11G>A
NM_004369.4(COL6A3):c.9494-6G>A
NM_004369.4(COL6A3):c.985G>A (p.Val329Met) rs542283928
NM_004371.4(COPA):c.3259A>T (p.Met1087Leu) rs2101819861
NM_004415.4(DSP):c.4044G>A (p.Leu1348=)
NM_004999.4(MYO6):c.1405G>A (p.Glu469Lys)
NM_005249.5(FOXG1):c.1256C>T (p.Pro419Leu) rs1555321437
NM_005458.8(GABBR2):c.2413-3T>C rs1830432060
NM_005609.4(PYGM):c.2020G>A (p.Ala674Thr) rs2058348746
NM_005609.4(PYGM):c.661-5del rs768761419
NM_006158.5(NEFL):c.786C>T (p.Arg262=)
NM_006567.5(FARS2):c.862G>C (p.Val288Leu)
NM_006593.4(TBR1):c.1168G>C (p.Gly390Arg)
NM_007118.4(TRIO):c.7711A>T (p.Asn2571Tyr)
NM_007271.4(STK38):c.222dup (p.Glu75fs) rs1582441467
NM_007289.4(MME):c.1189-4G>A rs182602615
NM_007289.4(MME):c.655-4A>G
NM_007294.4(BRCA1):c.3122C>T (p.Ser1041Leu) rs397509035
NM_007347.5(AP4E1):c.3249T>G (p.Ile1083Met)
NM_007363.5(NONO):c.808C>T (p.Arg270Cys) rs1602389542
NM_012470.4(TNPO3):c.1043G>A (p.Arg348Gln)
NM_012470.4(TNPO3):c.2191C>T (p.Pro731Ser)
NM_013382.7(POMT2):c.2081C>T (p.Ser694Leu)
NM_014000.3(VCL):c.1382C>A (p.Ala461Asp) rs886038800
NM_014365.3(HSPB8):c.439G>A (p.Ala147Thr)
NM_014846.4(WASHC5):c.1522G>T (p.Val508Phe)
NM_014874.4(MFN2):c.1327G>C (p.Val443Leu)
NM_014874.4(MFN2):c.1717-5C>T rs1639425658
NM_015015.3(KDM4B):c.454G>A (p.Gly152Arg) rs1470477522
NM_015271.5(TRIM2):c.1918G>T (p.Gly640Cys) rs1579721449
NM_015295.3(SMCHD1):c.1172A>G (p.Asn391Ser) rs1598331615
NM_015295.3(SMCHD1):c.1367A>G (p.Asp456Gly) rs1471076468
NM_015295.3(SMCHD1):c.2063G>C (p.Arg688Thr)
NM_015295.3(SMCHD1):c.2384T>C (p.Val795Ala) rs1480135119
NM_015295.3(SMCHD1):c.2775T>G (p.Gly925=) rs754336396
NM_015295.3(SMCHD1):c.2776C>T (p.His926Tyr)
NM_015295.3(SMCHD1):c.3097A>G (p.Ser1033Gly) rs1598380521
NM_015295.3(SMCHD1):c.3801+2T>C
NM_015295.3(SMCHD1):c.3891T>A (p.His1297Gln) rs758075470
NM_015295.3(SMCHD1):c.4702G>C (p.Gly1568Arg) rs2143700148
NM_015295.3(SMCHD1):c.5994-11C>G
NM_015295.3(SMCHD1):c.620G>A (p.Arg207Lys)
NM_015295.3(SMCHD1):c.694A>G (p.Ile232Val) rs1568143698
NM_015295.3(SMCHD1):c.89T>G (p.Leu30Trp) rs1598264942
NM_016203.4(PRKAG2):c.392C>G (p.Ser131Cys)
NM_016239.4(MYO15A):c.8083A>C (p.Lys2695Gln)
NM_017636.4(TRPM4):c.1496G>A (p.Arg499Gln) rs2122936347
NM_017739.4(POMGNT1):c.1111-9C>G rs757533535
NM_017739.4(POMGNT1):c.1153-6T>C
NM_017868.4(TTC12):c.1801A>G (p.Ile601Val)
NM_018052.5(VAC14):c.2033C>A (p.Thr678Lys) rs2053688489
NM_018706.7(DHTKD1):c.1615G>A (p.Val539Ile)
NM_018706.7(DHTKD1):c.2288T>C (p.Val763Ala) rs1457770815
NM_019842.4(KCNQ5):c.1196C>A (p.Ala399Asp)
NM_020376.4(PNPLA2):c.919+8C>G rs2133849779
NM_020433.5(JPH2):c.35G>A (p.Gly12Glu)
NM_020778.5(ALPK3):c.3842G>C (p.Arg1281Pro)
NM_021625.5(TRPV4):c.1018_1019del (p.Lys340fs)
NM_021625.5(TRPV4):c.2044G>A (p.Asp682Asn) rs968378720
NM_021942.6(TRAPPC11):c.2186T>C (p.Leu729Pro) rs1736339881
NM_021971.4(GMPPB):c.1004A>T (p.Glu335Val) rs2080415058
NM_022114.4(PRDM16):c.1788C>G (p.Ser596Arg) rs766972389
NM_022489.4(INF2):c.635G>A (p.Arg212His)
NM_024301.5(FKRP):c.605T>C (p.Leu202Pro)
NM_024301.5(FKRP):c.638C>T (p.Pro213Leu)
NM_024334.3(TMEM43):c.23C>A (p.Thr8Asn)
NM_024514.5(CYP2R1):c.1394T>G (p.Leu465Trp) rs2134008602
NM_030973.4(MED25):c.305+14C>G rs773627830
NM_032564.5(DGAT2):c.245T>C (p.Val82Ala)
NM_032578.4(MYPN):c.121C>A (p.Pro41Thr) rs759400657
NM_032578.4(MYPN):c.3008C>T (p.Ser1003Phe)
NM_033123.4(PLCZ1):c.1251T>A (p.Asn417Lys)
NM_058246.4(DNAJB6):c.78G>A (p.Leu26=) rs2116973747
NM_130797.4(DPP6):c.2183dup (p.Asn728fs)
NM_138638.5(CFL2):c.353C>G (p.Ala118Gly) rs865927835
NM_144573.4(NEXN):c.822AGA[2] (p.Glu277del)
NM_170707.4(LMNA):c.1270A>C (p.Thr424Pro) rs1166140426
NM_170707.4(LMNA):c.165G>T (p.Glu55Asp)
NM_170707.4(LMNA):c.635G>A (p.Ser212Asn)
NM_172084.3(CAMK2B):c.946+9653_946+9655del
NM_198681.4(PLEKHG5):c.-120C>T rs201669114
NM_206933.4(USH2A):c.1233C>A (p.Asp411Glu)
NM_206933.4(USH2A):c.257A>T (p.Gln86Leu)
NM_213595.4(ISCU):c.445G>A (p.Ala149Thr) rs750338671
NM_213599.3(ANO5):c.2030-3_2030-2dup rs768691315

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