ClinVar Miner

List of variants in gene PLCB4 reported as pathogenic for auriculocondylar syndrome 2

Included ClinVar conditions (1):
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001377142.1(PLCB4):c.1897C>T (p.Arg633Cys) rs397514482 0.00003
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.1648-279_2051+1546del
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.2814+1G>C
NM_001377142.1(PLCB4):c.986A>G (p.Asn329Ser) rs387907179

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