List of variants in gene OFD1 reported as likely pathogenic for Orofaciodigital syndrome I

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NC_000023.11:g.13738845G>T
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)	rs2047796952
NM_003611.3(OFD1):c.2193del (p.Arg732fs)	rs1602904530
NM_003611.3(OFD1):c.220_221insTAAAAGAGCTGC (p.Ser74delinsLeuLysGluLeuPro)	rs1555900734
NM_003611.3(OFD1):c.237_243delinsGCCTA (p.Asp80fs)	rs2146913390
NM_003611.3(OFD1):c.2488+1G>A	rs2147060461
NM_003611.3(OFD1):c.2791_2795del (p.Lys931fs)	rs1602942625
NM_003611.3(OFD1):c.412+1G>T	rs1555901169
NM_003611.3(OFD1):c.412+2_412+5del
NM_003611.3(OFD1):c.613_614delinsTATA (p.Arg205fs)	rs1602826217

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