ClinVar Miner

List of variants studied for auriculocondylar syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 142
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HGVS dbSNP gnomAD frequency
NM_001955.5(EDN1):c.318A>G (p.Glu106=) rs5369 0.87916
NM_001377142.1(PLCB4):c.61G>A (p.Ala21Thr) rs6077510 0.50724
NM_001377142.1(PLCB4):c.854-49A>G rs2076234 0.28925
NM_001377142.1(PLCB4):c.2880+14C>A rs6056629 0.24167
NM_001377142.1(PLCB4):c.2815-15A>C rs6039471 0.21716
NM_001955.5(EDN1):c.594G>T (p.Lys198Asn) rs5370 0.20507
NM_001377142.1(PLCB4):c.1065-8A>G rs7265290 0.08857
NM_001377142.1(PLCB4):c.2155-4A>G rs6056609 0.08621
NM_001377142.1(PLCB4):c.*271A>G rs2076392 0.08109
NM_001377142.1(PLCB4):c.*345C>T rs77776955 0.06654
NM_001377142.1(PLCB4):c.*1003A>C rs74772813 0.05811
NM_001377142.1(PLCB4):c.2051+8A>G rs56772399 0.04208
NM_001377142.1(PLCB4):c.3045G>A (p.Gln1015=) rs35285428 0.02255
NM_001377142.1(PLCB4):c.*738G>A rs41275612 0.02205
NM_001377142.1(PLCB4):c.*955T>C rs114844715 0.01967
NM_001377142.1(PLCB4):c.*563del rs148015873 0.01013
NM_001377142.1(PLCB4):c.*1731A>T rs147197006 0.01008
NM_001377142.1(PLCB4):c.2400G>A (p.Pro800=) rs16995899 0.00802
NM_001377142.1(PLCB4):c.*374A>G rs138221578 0.00670
NM_001377142.1(PLCB4):c.*1202G>A rs114009007 0.00591
NM_001377142.1(PLCB4):c.*230G>C rs149256309 0.00506
NM_001377142.1(PLCB4):c.2154+8C>A rs75492366 0.00407
NM_001377142.1(PLCB4):c.2628C>T (p.Asp876=) rs35218589 0.00310
NM_001377142.1(PLCB4):c.2052-7C>T rs185396159 0.00275
NM_001377142.1(PLCB4):c.2858C>A (p.Ser953Tyr) rs148347249 0.00275
NM_001377142.1(PLCB4):c.1364A>G (p.Lys455Arg) rs142617224 0.00231
NM_001377142.1(PLCB4):c.*1136C>A rs181369739 0.00158
NM_001377142.1(PLCB4):c.2997-6T>C rs117123647 0.00130
NM_001377142.1(PLCB4):c.1428T>C (p.Ala476=) rs140773788 0.00115
NM_001377142.1(PLCB4):c.833A>T (p.Asp278Val) rs147655952 0.00114
NM_001377142.1(PLCB4):c.*1487G>C rs546587344 0.00098
NM_001377142.1(PLCB4):c.3534C>T (p.Gly1178=) rs145676690 0.00087
NM_001377142.1(PLCB4):c.1677G>A (p.Ala559=) rs35479108 0.00063
NM_001377142.1(PLCB4):c.2936A>G (p.Gln979Arg) rs141568926 0.00058
NM_001377142.1(PLCB4):c.2525-8T>C rs185755472 0.00039
NM_001377142.1(PLCB4):c.*1412C>T rs752095719 0.00038
NM_001377142.1(PLCB4):c.462G>A (p.Leu154=) rs142392531 0.00034
NM_001377142.1(PLCB4):c.607G>A (p.Ala203Thr) rs151335126 0.00034
NM_001377142.1(PLCB4):c.*811T>C rs551303407 0.00029
NM_001377142.1(PLCB4):c.3122A>G (p.Asn1041Ser) rs147312767 0.00026
NM_001377142.1(PLCB4):c.*1011A>G rs866488779 0.00025
NM_001377142.1(PLCB4):c.1485C>T (p.Asp495=) rs374048213 0.00024
NM_001377142.1(PLCB4):c.421G>A (p.Val141Ile) rs144345083 0.00024
NM_001377142.1(PLCB4):c.2154+9C>G rs199598049 0.00021
NM_001377142.1(PLCB4):c.*1305T>A rs989635266 0.00020
NM_001377142.1(PLCB4):c.2046G>A (p.Ser682=) rs200584230 0.00018
NM_001377142.1(PLCB4):c.*209A>C rs576484180 0.00013
NM_001377142.1(PLCB4):c.*586C>T rs767459614 0.00013
NM_001377142.1(PLCB4):c.226-8C>T rs78678483 0.00013
NM_001377142.1(PLCB4):c.*1353A>C rs192145916 0.00011
NM_001377142.1(PLCB4):c.1414+15C>T rs377545373 0.00011
NM_001377142.1(PLCB4):c.504-6C>T rs184366128 0.00009
NM_001377142.1(PLCB4):c.*1766G>A rs189786768 0.00007
NM_001377142.1(PLCB4):c.1611+12C>T rs761137370 0.00007
NM_001377142.1(PLCB4):c.*1461A>G rs886056989 0.00006
NM_001377142.1(PLCB4):c.1749C>T (p.Tyr583=) rs149835904 0.00006
NM_001377142.1(PLCB4):c.*469G>T rs886056986 0.00005
NM_001377142.1(PLCB4):c.*694C>T rs181298911 0.00004
NM_001377142.1(PLCB4):c.1462T>G (p.Ser488Ala) rs185740474 0.00004
NM_001377142.1(PLCB4):c.936C>T (p.Tyr312=) rs138780838 0.00004
NM_001377142.1(PLCB4):c.1833C>T (p.Val611=) rs778436381 0.00003
NM_001377142.1(PLCB4):c.1897C>T (p.Arg633Cys) rs397514482 0.00003
NM_001377142.1(PLCB4):c.3408+11T>C rs762636208 0.00003
NM_001377142.1(PLCB4):c.*90A>T rs554019512 0.00002
NM_001377142.1(PLCB4):c.1738A>G (p.Met580Val) rs369233949 0.00002
NM_001377142.1(PLCB4):c.3133G>T (p.Ala1045Ser) rs779018136 0.00002
NM_001377142.1(PLCB4):c.*1047C>G rs572706532 0.00001
NM_001377142.1(PLCB4):c.*1292G>A rs1220954642 0.00001
NM_001377142.1(PLCB4):c.*1355G>T rs1388801100 0.00001
NM_001377142.1(PLCB4):c.*869G>T rs886056987 0.00001
NM_001377142.1(PLCB4):c.1885C>T (p.Arg629Trp) rs530479821 0.00001
NM_001377142.1(PLCB4):c.2000-5G>T rs892541317 0.00001
NM_001377142.1(PLCB4):c.2257C>T (p.Arg753Cys) rs781222515 0.00001
NM_001377142.1(PLCB4):c.2566A>G (p.Ile856Val) rs151284195 0.00001
NM_001377142.1(PLCB4):c.3028A>G (p.Thr1010Ala) rs377357771 0.00001
NM_001377142.1(PLCB4):c.3119T>C (p.Ile1040Thr) rs530143044 0.00001
NM_001377142.1(PLCB4):c.3203A>G (p.Asn1068Ser) rs763122670 0.00001
NM_001377142.1(PLCB4):c.535G>A (p.Glu179Lys) rs886056980 0.00001
NM_001377142.1(PLCB4):c.854-12T>A rs886056981 0.00001
NM_001377142.1(PLCB4):c.854-13C>T rs867987334 0.00001
NM_001377142.1(PLCB4):c.903C>T (p.Asn301=) rs142446000 0.00001
NC_000007.14:g.18437239_18867540dup
NM_001377142.1(PLCB4):c.*1018T>C rs2044788464
NM_001377142.1(PLCB4):c.*109T>C rs949593893
NM_001377142.1(PLCB4):c.*1104G>T rs886056988
NM_001377142.1(PLCB4):c.*1191T>G rs1023352208
NM_001377142.1(PLCB4):c.*1220A>G rs2044797075
NM_001377142.1(PLCB4):c.*1402A>G rs1171480254
NM_001377142.1(PLCB4):c.*1585dup rs565091978
NM_001377142.1(PLCB4):c.*1610G>A rs2044811091
NM_001377142.1(PLCB4):c.*1672del rs886056991
NM_001377142.1(PLCB4):c.*343T>G rs2044756636
NM_001377142.1(PLCB4):c.*470C>A rs2044762461
NM_001377142.1(PLCB4):c.*64T>A rs372023385
NM_001377142.1(PLCB4):c.*744G>A rs1257247669
NM_001377142.1(PLCB4):c.*785A>G rs2044776961
NM_001377142.1(PLCB4):c.*874A>G rs2044781913
NM_001377142.1(PLCB4):c.1015G>A (p.Gly339Arg)
NM_001377142.1(PLCB4):c.1073A>T (p.Glu358Val) rs397514769
NM_001377142.1(PLCB4):c.1078G>A (p.Asp360Asn) rs397514770
NM_001377142.1(PLCB4):c.1079A>T (p.Asp360Val) rs397514771
NM_001377142.1(PLCB4):c.1124A>G (p.His375Arg) rs2037778050
NM_001377142.1(PLCB4):c.1223T>C (p.Phe408Ser) rs2148407785
NM_001377142.1(PLCB4):c.1648-11T>G rs886056982
NM_001377142.1(PLCB4):c.1648-279_2051+1546del
NM_001377142.1(PLCB4):c.1874+8T>C rs2039640592
NM_001377142.1(PLCB4):c.1875-3C>T rs1164290595
NM_001377142.1(PLCB4):c.1898G>A (p.Arg633His) rs397514481
NM_001377142.1(PLCB4):c.1898G>T (p.Arg633Leu) rs397514481
NM_001377142.1(PLCB4):c.1904A>G (p.Tyr635Cys) rs397514480
NM_001377142.1(PLCB4):c.1924G>A (p.Asp642Asn) rs1568763104
NM_001377142.1(PLCB4):c.1984A>C (p.Asn662His) rs397514483
NM_001377142.1(PLCB4):c.2030T>A (p.Phe677Tyr) rs772123872
NM_001377142.1(PLCB4):c.2050G>A (p.Gly684Arg) rs2039824942
NM_001377142.1(PLCB4):c.2331G>C (p.Pro777=) rs147575829
NM_001377142.1(PLCB4):c.2635A>T (p.Ser879Cys) rs886056983
NM_001377142.1(PLCB4):c.2676C>T (p.Thr892=) rs34678819
NM_001377142.1(PLCB4):c.2808G>A (p.Gln936=) rs756075104
NM_001377142.1(PLCB4):c.2814+1G>C
NM_001377142.1(PLCB4):c.2894T>C (p.Met965Thr) rs2042882461
NM_001377142.1(PLCB4):c.3210C>G (p.His1070Gln) rs140050954
NM_001377142.1(PLCB4):c.3409-4del rs886056984
NM_001377142.1(PLCB4):c.3496-5_3496-2del rs886056985
NM_001377142.1(PLCB4):c.3580C>T (p.Gln1194Ter) rs1568928967
NM_001377142.1(PLCB4):c.591T>A (p.Asp197Glu) rs532652161
NM_001377142.1(PLCB4):c.687-3C>G rs2148305044
NM_001377142.1(PLCB4):c.751C>A (p.Arg251=) rs1171194814
NM_001377142.1(PLCB4):c.84+6G>T rs771835045
NM_001377142.1(PLCB4):c.986A>C (p.Asn329Thr) rs387907179
NM_001377142.1(PLCB4):c.986A>G (p.Asn329Ser) rs387907179
NM_001955.5(EDN1):c.184G>C (p.Glu62Gln) rs1561693994
NM_001955.5(EDN1):c.191T>A (p.Val64Asp) rs587777233
NM_001955.5(EDN1):c.230C>A (p.Pro77His) rs587777232
NM_001955.5(EDN1):c.249T>G (p.Tyr83Ter) rs587777234
NM_001955.5(EDN1):c.271A>G (p.Lys91Glu) rs587777231
NM_006496.4(GNAI3):c.118G>C (p.Gly40Arg) rs387907178
NM_006496.4(GNAI3):c.136A>G (p.Lys46Glu)
NM_006496.4(GNAI3):c.140G>A (p.Ser47Asn) rs1553223897
NM_006496.4(GNAI3):c.141C>A (p.Ser47Arg) rs397514768
NM_006496.4(GNAI3):c.145A>G (p.Ile49Val)
NM_006496.4(GNAI3):c.146T>C (p.Ile49Thr) rs1553223899
NM_006496.4(GNAI3):c.303+1G>A rs1648676750

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