ClinVar Miner

List of variants reported as likely pathogenic for Orofaciodigital syndrome I

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Total variants: 9
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NM_003611.3(OFD1):c.1061_1065del (p.Gln354fs) rs1555904480
NM_003611.3(OFD1):c.112-2del rs1555900675
NM_003611.3(OFD1):c.1603_1604del (p.Leu535fs) rs1569145145
NM_003611.3(OFD1):c.1640A>G (p.Lys547Arg)
NM_003611.3(OFD1):c.2193del (p.Arg732fs) rs1602904530
NM_003611.3(OFD1):c.220_221insTAAAAGAGCTGC (p.Ser74delinsLeuLysGluLeuPro) rs1555900734
NM_003611.3(OFD1):c.2791_2795del (p.Lys931fs) rs1602942625
NM_003611.3(OFD1):c.412+1G>T rs1555901169
NM_003611.3(OFD1):c.613_614delinsTATA (p.Arg205fs) rs1602826217

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