ClinVar Miner

List of variants reported as pathogenic for Adams-Oliver syndrome 1

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_020754.4(ARHGAP31):c.2047C>T (p.Gln683Ter)	rs387907031
NM_020754.4(ARHGAP31):c.2182C>T (p.Gln728Ter)	rs1553768038
NM_020754.4(ARHGAP31):c.3260del (p.Lys1087fs)	rs1559999373

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