ClinVar Miner

List of variants in gene PLCB4 reported as uncertain significance for auriculocondylar syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001377142.1(PLCB4):c.*1412C>T rs752095719 0.00038
NM_001377142.1(PLCB4):c.*1011A>G rs866488779 0.00025
NM_001377142.1(PLCB4):c.*1305T>A rs989635266 0.00020
NM_001377142.1(PLCB4):c.*586C>T rs767459614 0.00013
NM_001377142.1(PLCB4):c.*1353A>C rs192145916 0.00011
NM_001377142.1(PLCB4):c.*1461A>G rs886056989 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.*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.2000-5G>T rs892541317 0.00001
NM_001377142.1(PLCB4):c.2257C>T (p.Arg753Cys) rs781222515 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.*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.*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.1223T>C (p.Phe408Ser) rs2148407785
NM_001377142.1(PLCB4):c.1648-11T>G rs886056982
NM_001377142.1(PLCB4):c.1874+8T>C rs2039640592
NM_001377142.1(PLCB4):c.1875-3C>T rs1164290595
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.2635A>T (p.Ser879Cys) rs886056983
NM_001377142.1(PLCB4):c.2681A>C (p.Lys894Thr)
NM_001377142.1(PLCB4):c.2808G>A (p.Gln936=) rs756075104
NM_001377142.1(PLCB4):c.2894T>C (p.Met965Thr) rs2042882461
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.962A>T (p.His321Leu)

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