ClinVar Miner

List of variants in gene PLCB4 reported as benign for auriculocondylar syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
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_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.*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.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.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.*209A>C rs576484180 0.00013
NM_001377142.1(PLCB4):c.226-8C>T rs78678483 0.00013
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.1749C>T (p.Tyr583=) rs149835904 0.00006
NM_001377142.1(PLCB4):c.1462T>G (p.Ser488Ala) rs185740474 0.00004
NM_001377142.1(PLCB4):c.1833C>T (p.Val611=) rs778436381 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.1885C>T (p.Arg629Trp) rs530479821 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.2331G>C (p.Pro777=) rs147575829
NM_001377142.1(PLCB4):c.2676C>T (p.Thr892=) rs34678819
NM_001377142.1(PLCB4):c.3210C>G (p.His1070Gln) rs140050954

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