ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001377142.1(PLCB4):c.2525-8T>C rs185755472 0.00039
NM_001377142.1(PLCB4):c.3122A>G (p.Asn1041Ser) rs147312767 0.00026
NM_001377142.1(PLCB4):c.2046G>A (p.Ser682=) rs200584230 0.00018
NM_001377142.1(PLCB4):c.1611+12C>T rs761137370 0.00007
NM_001377142.1(PLCB4):c.936C>T (p.Tyr312=) rs138780838 0.00004
NM_001377142.1(PLCB4):c.3408+11T>C rs762636208 0.00003
NM_001377142.1(PLCB4):c.3133G>T (p.Ala1045Ser) rs779018136 0.00002
NM_001377142.1(PLCB4):c.2566A>G (p.Ile856Val) rs151284195 0.00001
NM_001377142.1(PLCB4):c.903C>T (p.Asn301=) rs142446000 0.00001
NM_001377142.1(PLCB4):c.2331G>C (p.Pro777=) rs147575829

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