ClinVar Miner

List of variants reported as pathogenic for auriculocondylar syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001377142.1(PLCB4):c.1897C>T (p.Arg633Cys) rs397514482 0.00003
NC_000007.14:g.18437239_18867540dup
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>C (p.Asn329Thr) rs387907179
NM_001377142.1(PLCB4):c.986A>G (p.Asn329Ser) rs387907179
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.141C>A (p.Ser47Arg) rs397514768

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