ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Athena Diagnostics Inc and "likely benign" from Invitae

Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 384
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245 0.00349
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00255
NM_001293298.2(CEMIP):c.3397G>A (p.Glu1133Lys) rs151273972 0.00239
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg) rs74315416 0.00220
NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro) rs77154172 0.00212
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr) rs145556097 0.00195
NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr) rs116700257 0.00177
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu) rs61744480 0.00177
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_001083961.2(WDR62):c.253G>A (p.Val85Met) rs146274964 0.00161
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405 0.00159
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386 0.00149
NM_016341.4(PLCE1):c.1495C>T (p.Arg499Cys) rs61751493 0.00134
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977 0.00131
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833 0.00130
NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser) rs201044013 0.00125
NM_000352.6(ABCC8):c.1177-56G>A rs183921963 0.00123
NM_032119.4(ADGRV1):c.207+3A>G rs142356935 0.00119
NM_014053.4(FLVCR1):c.1624C>T (p.Pro542Ser) rs141575859 0.00117
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) rs201089582 0.00116
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr) rs200510532 0.00110
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_001080414.4(CCDC88C):c.1878G>C (p.Lys626Asn) rs78468999 0.00105
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
NM_006420.3(ARFGEF2):c.811C>G (p.Pro271Ala) rs143570842 0.00102
NM_000352.6(ABCC8):c.1630+10C>T rs188075767 0.00098
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) rs139059149 0.00095
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00093
NM_021008.4(DEAF1):c.1186G>A (p.Gly396Ser) rs138447102 0.00090
NM_000336.3(SCNN1B):c.1888G>A (p.Val630Ile) rs72654357 0.00089
NM_016239.4(MYO15A):c.9181G>A (p.Glu3061Lys) rs116833707 0.00089
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) rs148064565 0.00088
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297 0.00088
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463 0.00085
NM_018075.5(ANO10):c.88G>C (p.Glu30Gln) rs147605535 0.00085
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu) rs192047082 0.00083
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile) rs202110635 0.00083
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys) rs140613217 0.00081
NM_002335.4(LRP5):c.1413-7T>A rs141889567 0.00077
NM_016341.4(PLCE1):c.2786G>C (p.Ser929Thr) rs61732521 0.00076
NM_005529.7(HSPG2):c.4568G>A (p.Arg1523His) rs147633715 0.00075
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr) rs146269871 0.00074
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 0.00073
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu) rs113342704 0.00073
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu) rs34521483 0.00070
NM_001365999.1(SZT2):c.6977G>A (p.Arg2326Gln) rs146140125 0.00068
NM_001379500.1(COL18A1):c.1882G>A (p.Ala628Thr) rs181012655 0.00066
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His) rs201416399 0.00066
NM_006922.4(SCN3A):c.44G>A (p.Arg15His) rs139769668 0.00064
NM_001292063.2(OTOG):c.4641G>T (p.Glu1547Asp) rs764159927 0.00061
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917 0.00061
NM_012301.4(MAGI2):c.3706+5G>A rs188293910 0.00060
NM_000497.4(CYP11B1):c.50C>T (p.Ser17Phe) rs142591816 0.00058
NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile) rs140220538 0.00057
NM_001379180.1(ESRRB):c.*1535G>A rs200237229 0.00056
NM_203290.4(POLR1C):c.421C>T (p.Arg141Cys) rs148385032 0.00054
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala) rs201890097 0.00053
NM_144991.3(TSPEAR):c.668C>T (p.Ser223Leu) rs149481227 0.00053
NM_004646.4(NPHS1):c.1619C>A (p.Ala540Glu) rs149598144 0.00051
NM_080680.3(COL11A2):c.517C>T (p.Arg173Trp) rs146522169 0.00051
NM_000352.6(ABCC8):c.3867+7G>A rs372198547 0.00049
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly) rs200197273 0.00046
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00044
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val) rs200225298 0.00043
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460 0.00042
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) rs142284018 0.00040
NM_001031679.3(MSRB3):c.523G>A (p.Ala175Thr) rs200201418 0.00039
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys) rs192813057 0.00039
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) rs370906851 0.00039
NM_001128840.3(CACNA1D):c.3853G>A (p.Ala1285Thr) rs144474773 0.00036
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu) rs201689819 0.00036
NM_018136.5(ASPM):c.6702A>G (p.Gln2234=) rs142587742 0.00036
NM_001845.6(COL4A1):c.2669C>T (p.Pro890Leu) rs139859950 0.00035
NM_018109.4(MTPAP):c.1607C>G (p.Pro536Arg) rs147174746 0.00034
NM_032737.4(LMNB2):c.574G>T (p.Ala192Ser) rs112419003 0.00033
NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu) rs147879224 0.00033
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys) rs140678034 0.00032
NM_000142.5(FGFR3):c.2396C>T (p.Pro799Leu) rs150452037 0.00031
NM_001013693.3(LDLRAD2):c.*1278C>T rs376645617 0.00031
NM_001039.4(SCNN1G):c.1939G>T (p.Asp647Tyr) rs72647543 0.00030
NM_000336.3(SCNN1B):c.880+10G>A rs200089599 0.00029
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) rs150368988 0.00029
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181 0.00029
NM_016239.4(MYO15A):c.10121G>A (p.Arg3374His) rs201794696 0.00029
NM_020247.5(COQ8A):c.62C>T (p.Ala21Val) rs142184584 0.00027
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys) rs144147839 0.00025
NM_005529.7(HSPG2):c.9060G>A (p.Arg3020=) rs372508479 0.00024
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys) rs61978562 0.00024
NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg) rs200719553 0.00024
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala) rs372022664 0.00022
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743 0.00021
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln) rs373741172 0.00020
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) rs138908576 0.00020
NM_015087.5(SPART):c.1414G>T (p.Ala472Ser) rs142482393 0.00019
NM_005529.7(HSPG2):c.6820G>A (p.Ala2274Thr) rs190391786 0.00018
NM_201525.4(ADGRG1):c.401C>T (p.Pro134Leu) rs138344683 0.00018
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp) rs149018756 0.00017
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys) rs138379074 0.00017
NM_024306.5(FA2H):c.925G>A (p.Val309Ile) rs150427439 0.00017
NM_000352.6(ABCC8):c.4412-14C>T rs193922404 0.00016
NM_020247.5(COQ8A):c.730+7C>T rs370924314 0.00016
NM_024306.5(FA2H):c.1112C>T (p.Thr371Met) rs141854925 0.00016
NM_000162.5(GCK):c.364-13G>A rs372405219 0.00015
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr) rs569940067 0.00015
NM_018136.5(ASPM):c.2761-11T>C rs368239890 0.00015
NM_033305.3(VPS13A):c.7047G>A (p.Glu2349=) rs552113529 0.00015
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr) rs782481491 0.00014
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile) rs201569239 0.00013
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys) rs141553858 0.00012
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn) rs144715822 0.00012
NM_032119.4(ADGRV1):c.8401G>A (p.Gly2801Arg) rs760510612 0.00012
NM_000162.5(GCK):c.363+9C>T rs200985182 0.00011
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser) rs764148985 0.00011
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln) rs200069592 0.00011
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys) rs201798841 0.00011
NM_020247.5(COQ8A):c.1698G>A (p.Leu566=) rs543820987 0.00011
NM_022124.6(CDH23):c.7394G>A (p.Arg2465Gln) rs199903227 0.00011
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His) rs375122809 0.00011
NM_198904.4(GABRG2):c.1207A>G (p.Thr403Ala) rs757868774 0.00011
NM_080680.3(COL11A2):c.4898G>A (p.Gly1633Asp) rs143920565 0.00010
NM_201525.4(ADGRG1):c.1371C>T (p.Ser457=) rs747812668 0.00010
NM_201525.4(ADGRG1):c.26C>T (p.Thr9Met) rs200241873 0.00010
NM_000435.3(NOTCH3):c.3421G>A (p.Val1141Met) rs373181668 0.00009
NM_004820.5(CYP7B1):c.757A>G (p.Lys253Glu) rs200328073 0.00009
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys) rs373478772 0.00009
NM_014363.6(SACS):c.5744A>G (p.His1915Arg) rs144822691 0.00009
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr) rs375632680 0.00009
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=) rs375062187 0.00009
NM_032737.4(LMNB2):c.1553C>T (p.Thr518Met) rs368745985 0.00009
NM_002156.5(HSPD1):c.175-7C>T rs374694909 0.00008
NM_002473.6(MYH9):c.5338C>T (p.Arg1780Trp) rs527571090 0.00008
NM_005529.7(HSPG2):c.1507+9G>A rs371371189 0.00008
NM_018075.5(ANO10):c.397G>A (p.Glu133Lys) rs571983239 0.00008
NM_020247.5(COQ8A):c.1899C>T (p.Phe633=) rs150569155 0.00008
NM_020247.5(COQ8A):c.794G>A (p.Arg265His) rs199696414 0.00008
NM_032119.4(ADGRV1):c.15113T>C (p.Ile5038Thr) rs192561791 0.00008
NM_006946.4(SPTBN2):c.1504A>G (p.Ile502Val) rs751351000 0.00007
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) rs148925505 0.00007
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys) rs375805688 0.00007
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu) rs370095300 0.00007
NM_020247.5(COQ8A):c.1612C>T (p.Arg538Trp) rs201331131 0.00007
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His) rs146696298 0.00006
NM_000335.5(SCN5A):c.393-5C>A rs368678204 0.00006
NM_000370.3(TTPA):c.355A>G (p.Ile119Val) rs766200402 0.00006
NM_000435.3(NOTCH3):c.1416G>T (p.Glu472Asp) rs1416152273 0.00006
NM_000458.4(HNF1B):c.1339+17G>A rs374854968 0.00006
NM_001384140.1(PCDH15):c.3807-6T>G rs727504791 0.00006
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_006946.4(SPTBN2):c.1336C>T (p.Arg446Cys) rs147422843 0.00006
NM_006946.4(SPTBN2):c.5593C>T (p.Arg1865Trp) rs755595060 0.00006
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr) rs201505036 0.00006
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val) rs375961779 0.00006
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr) rs200707453 0.00006
NM_014363.6(SACS):c.2776A>G (p.Ile926Val) rs144362131 0.00006
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu) rs755723511 0.00006
NM_016239.4(MYO15A):c.4561G>C (p.Glu1521Gln) rs769189017 0.00006
NM_000435.3(NOTCH3):c.351C>T (p.Cys117=) rs200881673 0.00005
NM_000458.4(HNF1B):c.1654-4G>A rs193922485 0.00005
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr) rs767787371 0.00005
NM_014363.6(SACS):c.13039A>G (p.Ile4347Val) rs200939906 0.00005
NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp) rs376505416 0.00005
NM_032119.4(ADGRV1):c.4786G>A (p.Val1596Ile) rs371179945 0.00005
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys) rs532351874 0.00004
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930 0.00004
NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe) rs747238231 0.00004
NM_000352.6(ABCC8):c.1924-10C>T rs200823913 0.00004
NM_000352.6(ABCC8):c.3558-7G>A rs900191703 0.00004
NM_000435.3(NOTCH3):c.1729A>G (p.Thr577Ala) rs368181126 0.00004
NM_000435.3(NOTCH3):c.1873G>A (p.Ala625Thr) rs747633377 0.00004
NM_000435.3(NOTCH3):c.3566T>C (p.Phe1189Ser) rs764617561 0.00004
NM_000435.3(NOTCH3):c.488G>A (p.Arg163Gln) rs761209241 0.00004
NM_000435.3(NOTCH3):c.6437C>T (p.Ala2146Val) rs770739669 0.00004
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys) rs752192756 0.00004
NM_000545.8(HNF1A):c.1502-14T>C rs765596650 0.00004
NM_000545.8(HNF1A):c.527-18G>A rs375259151 0.00004
NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr) rs782752037 0.00004
NM_001853.4(COL9A3):c.1538C>T (p.Pro513Leu) rs202094480 0.00004
NM_006922.4(SCN3A):c.4236A>G (p.Gln1412=) rs551837418 0.00004
NM_006946.4(SPTBN2):c.2647C>T (p.Arg883Cys) rs761263852 0.00004
NM_006946.4(SPTBN2):c.5060G>A (p.Arg1687Gln) rs763770499 0.00004
NM_014053.4(FLVCR1):c.1365C>T (p.Tyr455=) rs779980010 0.00004
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile) rs200591364 0.00004
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser) rs780789569 0.00004
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn) rs762041995 0.00004
NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu) rs150225486 0.00004
NM_014363.6(SACS):c.134C>T (p.Pro45Leu) rs1033188876 0.00004
NM_014363.6(SACS):c.1387C>A (p.His463Asn) rs149951538 0.00004
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr) rs778572943 0.00004
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val) rs138245586 0.00004
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln) rs764992284 0.00004
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn) rs769751841 0.00004
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656 0.00004
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr) rs762900727 0.00004
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00004
NM_033380.3(COL4A5):c.796C>G (p.Arg266Gly) rs104886071 0.00004
NM_198994.3(TGM6):c.727G>A (p.Gly243Ser) rs202245813 0.00004
NM_201525.4(ADGRG1):c.1781G>A (p.Arg594His) rs757051705 0.00004
NM_206933.4(USH2A):c.12344G>A (p.Arg4115His) rs775075094 0.00004
NM_000166.6(GJB1):c.297A>G (p.Gln99=) rs1213746899 0.00003
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu) rs780335726 0.00003
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn) rs748095080 0.00003
NM_000435.3(NOTCH3):c.3352A>T (p.Asn1118Tyr) rs376950447 0.00003
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser) rs201834803 0.00003
NM_001278064.2(GRM1):c.2026G>A (p.Val676Met) rs752403373 0.00003
NM_001379500.1(COL18A1):c.2684-9C>T rs1002126692 0.00003
NM_006946.4(SPTBN2):c.1160G>A (p.Arg387His) rs772590586 0.00003
NM_006946.4(SPTBN2):c.5826G>A (p.Ala1942=) rs373276784 0.00003
NM_014053.4(FLVCR1):c.346C>T (p.Leu116=) rs150645228 0.00003
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser) rs375898103 0.00003
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly) rs543563990 0.00003
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys) rs765758197 0.00003
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe) rs755172172 0.00003
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly) rs1170997950 0.00003
NM_014363.6(SACS):c.2853C>A (p.His951Gln) rs200644511 0.00003
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val) rs760976439 0.00003
NM_018075.5(ANO10):c.1559C>T (p.Ala520Val) rs150026260 0.00003
NM_020247.5(COQ8A):c.771G>A (p.Glu257=) rs371867831 0.00003
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His) rs201073459 0.00003
NM_000166.6(GJB1):c.699G>A (p.Ser233=) rs769112084 0.00002
NM_000260.4(MYO7A):c.3503+10G>A rs782049232 0.00002
NM_000260.4(MYO7A):c.5327-10C>T rs781062618 0.00002
NM_000399.5(EGR2):c.108G>A (p.Val36=) rs746579337 0.00002
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=) rs531373470 0.00002
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr) rs746095110 0.00002
NM_006946.4(SPTBN2):c.5137C>T (p.Arg1713Cys) rs754809056 0.00002
NM_006946.4(SPTBN2):c.5404G>A (p.Glu1802Lys) rs149317715 0.00002
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln) rs759206588 0.00002
NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp) rs746195427 0.00002
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys) rs747013127 0.00002
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser) rs376188585 0.00002
NM_014363.6(SACS):c.11776G>A (p.Asp3926Asn) rs756252903 0.00002
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe) rs760556327 0.00002
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln) rs772866081 0.00002
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu) rs747566710 0.00002
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys) rs759112797 0.00002
NM_016341.4(PLCE1):c.599C>T (p.Thr200Ile) rs777436865 0.00002
NM_020247.5(COQ8A):c.853+10C>T rs367945973 0.00002
NM_000092.5(COL4A4):c.3506-8T>G rs761588725 0.00001
NM_000092.5(COL4A4):c.3771G>A (p.Pro1257=) rs1384523881 0.00001
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293 0.00001
NM_000370.3(TTPA):c.6A>T (p.Ala2=) rs1805748956 0.00001
NM_000435.3(NOTCH3):c.329G>A (p.Arg110His) rs769955930 0.00001
NM_001278116.2(L1CAM):c.1304C>T (p.Thr435Met) rs371999853 0.00001
NM_001278116.2(L1CAM):c.2698G>A (p.Gly900Arg) rs782097679 0.00001
NM_001378452.1(ITPR1):c.1152-6T>C rs752886993 0.00001
NM_001845.6(COL4A1):c.553-10T>C rs370673476 0.00001
NM_004004.6(GJB2):c.628T>C (p.Leu210=) rs1036073348 0.00001
NM_005619.5(RTN2):c.79+6T>A rs749104931 0.00001
NM_006946.4(SPTBN2):c.2006C>T (p.Thr669Met) rs775522542 0.00001
NM_006946.4(SPTBN2):c.4833G>C (p.Met1611Ile) rs1328577241 0.00001
NM_006946.4(SPTBN2):c.6265A>T (p.Arg2089Trp) rs890981545 0.00001
NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met) rs750623875 0.00001
NM_012301.4(MAGI2):c.1425T>C (p.Tyr475=) rs148086431 0.00001
NM_014363.6(SACS):c.11887A>G (p.Met3963Val) rs375613914 0.00001
NM_014363.6(SACS):c.13269A>T (p.Ser4423=) rs1180908312 0.00001
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg) rs754693143 0.00001
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro) rs200437752 0.00001
NM_014363.6(SACS):c.2471C>T (p.Ser824Leu) rs762821420 0.00001
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu) rs776290829 0.00001
NM_014363.6(SACS):c.2611C>T (p.Pro871Ser) rs370103461 0.00001
NM_014363.6(SACS):c.3017A>G (p.His1006Arg) rs368149368 0.00001
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala) rs1443000762 0.00001
NM_014363.6(SACS):c.4597T>G (p.Ser1533Ala) rs1230237404 0.00001
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val) rs544249449 0.00001
NM_014363.6(SACS):c.47G>T (p.Gly16Val) rs886050090 0.00001
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu) rs771080306 0.00001
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn) rs774163551 0.00001
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met) rs368494148 0.00001
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val) rs1007936574 0.00001
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353 0.00001
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg) rs758654165 0.00001
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys) rs776143384 0.00001
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr) rs765635417 0.00001
NM_020247.5(COQ8A):c.1049A>G (p.Lys350Arg) rs548317868 0.00001
NM_020247.5(COQ8A):c.1773T>C (p.Ile591=) rs369502091 0.00001
NM_020247.5(COQ8A):c.358G>A (p.Val120Met) rs376347405 0.00001
NM_032119.4(ADGRV1):c.2800C>G (p.Pro934Ala) rs149600158 0.00001
NM_032119.4(ADGRV1):c.6728T>C (p.Ile2243Thr) rs1050561499 0.00001
NM_032119.4(ADGRV1):c.7007G>A (p.Arg2336Gln) rs755180090 0.00001
NM_198904.4(GABRG2):c.1172G>A (p.Arg391His) rs528036202 0.00001
NM_198904.4(GABRG2):c.375T>A (p.Arg125=) rs767423340 0.00001
NM_198994.3(TGM6):c.573C>G (p.Leu191=) rs1347908694 0.00001
NM_201384.3(PLEC):c.3081+9C>T rs371983298 0.00001
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000083.3(CLCN1):c.799C>T (p.Leu267=) rs1563075864
NM_000085.5(CLCNKB):c.1631_1632delinsAT (p.Arg544His) rs1553128179
NM_000085.5(CLCNKB):c.656-9C>T
NM_000091.5(COL4A3):c.87+8G>C
NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu) rs190148408
NM_000092.5(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_000162.5(GCK):c.680-19C>T
NM_000166.6(GJB1):c.147T>C (p.Ser49=) rs2092542885
NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu) rs565162134
NM_000304.4(PMP22):c.79-16A>C rs373417110
NM_000335.5(SCN5A):c.3388-10_3388-9del rs2061494723
NM_000335.5(SCN5A):c.393-5C>T rs368678204
NM_000352.6(ABCC8):c.1818-7del rs1955709311
NM_000352.6(ABCC8):c.2041-12C>T rs201419039
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000435.3(NOTCH3):c.1749G>A (p.Val583=)
NM_000435.3(NOTCH3):c.4627C>A (p.Leu1543Met) rs111838442
NM_000458.4(HNF1B):c.1207-7C>T rs1215174368
NM_000497.4(CYP11B1):c.240-18_240-17delinsAA rs1586561494
NM_000530.8(MPZ):c.585-7_585-5del rs770501358
NM_000530.8(MPZ):c.646-7C>G rs377495735
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu) rs193922580
NM_001080414.4(CCDC88C):c.5975_5976delinsCT (p.Leu1992Pro) rs1555413299
NM_001113491.2(SEPTIN9):c.353_354delinsCC (p.Gln118Pro) rs1555659856
NM_001278064.2(GRM1):c.3138G>A (p.Pro1046=)
NM_001278064.2(GRM1):c.885A>C (p.Thr295=)
NM_001367721.1(CASK):c.1669-7C>G rs780719523
NM_001378452.1(ITPR1):c.1614G>A (p.Leu538=) rs1297659569
NM_001378452.1(ITPR1):c.3318C>G (p.Ala1106=) rs2094337722
NM_001378452.1(ITPR1):c.5354-10A>G
NM_001378452.1(ITPR1):c.7562-10G>A
NM_001379500.1(COL18A1):c.1791TGGGCCCCC[1] (p.594PGP[3]) rs764710670
NM_001845.6(COL4A1):c.4151-10T>C
NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu) rs537303950
NM_004977.3(KCNC3):c.1883C>T (p.Ala628Val)
NM_004984.4(KIF5A):c.1362+7G>A rs1349376862
NM_005529.7(HSPG2):c.10151-4G>A
NM_005529.7(HSPG2):c.5925G>A (p.Leu1975=)
NM_005529.7(HSPG2):c.6134-4C>T
NM_006796.3(AFG3L2):c.1167C>T (p.Val389=) rs1282576516
NM_006796.3(AFG3L2):c.867C>T (p.Phe289=)
NM_006922.4(SCN3A):c.4983G>C (p.Leu1661=) rs1018125027
NM_006946.4(SPTBN2):c.5681G>A (p.Gly1894Glu) rs148293687
NM_006946.4(SPTBN2):c.6284G>A (p.Arg2095Gln)
NM_006946.4(SPTBN2):c.6502-5C>A
NM_006946.4(SPTBN2):c.753C>A (p.Thr251=)
NM_012233.3(RAB3GAP1):c.18+4A>G rs550325115
NM_013296.5(GPSM2):c.1472G>C (p.Gly491Ala) rs147906282
NM_014363.6(SACS):c.10158A>G (p.Ala3386=) rs775633710
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser) rs1425519295
NM_014363.6(SACS):c.10765A>G (p.Ile3589Val)
NM_014363.6(SACS):c.10766T>C (p.Ile3589Thr)
NM_014363.6(SACS):c.11109C>T (p.Ser3703=) rs1883570677
NM_014363.6(SACS):c.11296G>A (p.Val3766Ile)
NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu)
NM_014363.6(SACS):c.12618T>C (p.Ile4206=) rs1883457103
NM_014363.6(SACS):c.13244A>G (p.Gln4415Arg)
NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys)
NM_014363.6(SACS):c.1498G>A (p.Val500Ile) rs1244967438
NM_014363.6(SACS):c.1543C>T (p.Arg515Cys)
NM_014363.6(SACS):c.2180C>G (p.Thr727Ser)
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly) rs752059006
NM_014363.6(SACS):c.247T>C (p.Leu83=) rs1470292816
NM_014363.6(SACS):c.2572T>G (p.Ser858Ala)
NM_014363.6(SACS):c.3915T>C (p.His1305=) rs767598017
NM_014363.6(SACS):c.4538G>C (p.Gly1513Ala)
NM_014363.6(SACS):c.477C>T (p.Tyr159=) rs1870531490
NM_014363.6(SACS):c.5188A>C (p.Ser1730Arg)
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg) rs758570844
NM_014363.6(SACS):c.6179T>C (p.Val2060Ala)
NM_014363.6(SACS):c.744A>G (p.Ala248=) rs1448438600
NM_014363.6(SACS):c.751G>A (p.Val251Ile) rs776176699
NM_014363.6(SACS):c.7993C>T (p.Arg2665Cys)
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu) rs34928783
NM_014363.6(SACS):c.8795G>A (p.Arg2932Gln)
NM_014363.6(SACS):c.8819C>T (p.Thr2940Ile)
NM_014363.6(SACS):c.9245G>A (p.Cys3082Tyr)
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu) rs569955570
NM_016341.4(PLCE1):c.1927G>T (p.Ala643Ser) rs61886330
NM_016341.4(PLCE1):c.2032A>G (p.Met678Val) rs201422605
NM_016341.4(PLCE1):c.6853GAG[1] (p.Glu2286del) rs771798085
NM_018075.5(ANO10):c.1137T>C (p.Tyr379=)
NM_018075.5(ANO10):c.45C>T (p.Phe15=)
NM_018075.5(ANO10):c.488C>T (p.Thr163Met)
NM_018075.5(ANO10):c.946C>T (p.Leu316=)
NM_020247.5(COQ8A):c.1830C>T (p.His610=)
NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys) rs555171534
NM_022772.4(EPS8L2):c.1413G>A (p.Pro471=) rs369906914
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn) rs548329168
NM_032119.4(ADGRV1):c.9906+9C>T
NM_177924.5(ASAH1):c.126-7A>G rs771021569
NM_198994.3(TGM6):c.1431G>A (p.Gly477=) rs373549904
NM_203446.3(SYNJ1):c.384T>C (p.Phe128=) rs746811167

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