List of variants reported as pathogenic for Auriculocondylar syndrome 1

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001377142.1(PLCB4):c.1897C>T (p.Arg633Cys)	rs397514482	0.00001
NM_001377142.1(PLCB4):c.1898G>A (p.Arg633His)	rs397514481
NM_001377142.1(PLCB4):c.1904A>G (p.Tyr635Cys)	rs397514480
NM_001377142.1(PLCB4):c.1984A>C (p.Asn662His)	rs397514483
NM_001377142.1(PLCB4):c.986A>C (p.Asn329Thr)	rs387907179
NM_006496.4(GNAI3):c.118G>C (p.Gly40Arg)	rs387907178
NM_006496.4(GNAI3):c.140G>A (p.Ser47Asn)	rs1553223897
NM_006496.4(GNAI3):c.141C>A (p.Ser47Arg)	rs397514768
NM_006496.4(GNAI3):c.645dup (p.Glu216Ter)

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