ClinVar Miner

List of variants studied for Orofaciodigital syndrome I by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 7
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HGVS dbSNP
NM_003611.2(OFD1):c.312+1delG rs312262822
NM_003611.3(OFD1):c.1061_1065del (p.Gln354fs) rs1555904480
NM_003611.3(OFD1):c.112-2del rs1555900675
NM_003611.3(OFD1):c.220_221insTAAAAGAGCTGC (p.Ser74delinsLeuLysGluLeuPro) rs1555900734
NM_003611.3(OFD1):c.344T>A (p.Ile115Asn) rs1555901137
NM_003611.3(OFD1):c.412+1G>T rs1555901169
NM_003611.3(OFD1):c.613_614delinsTATA (p.Arg205fs) rs1602826217

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