ClinVar Miner

List of variants reported as pathogenic for auriculocondylar syndrome 1 by OMIM

Included ClinVar conditions (2):

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
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

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