ClinVar Miner

List of variants in gene OFD1 reported as likely pathogenic

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_003611.3(OFD1):c.324G>A (p.Met108Ile) rs763219658 0.00003
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.1220_1221+1del
NM_003611.3(OFD1):c.1221_1221+13del rs2147016815
NM_003611.3(OFD1):c.1485del (p.Glu496fs) rs2047765952
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.1654+5G>C rs1555906316
NM_003611.3(OFD1):c.1972A>T (p.Lys658Ter)
NM_003611.3(OFD1):c.2193del (p.Arg732fs) rs1602904530
NM_003611.3(OFD1):c.220_221insTAAAAGAGCTGC (p.Ser74delinsLeuLysGluLeuPro) rs1555900734
NM_003611.3(OFD1):c.2261-6C>G rs769923969
NM_003611.3(OFD1):c.2273C>G (p.Ser758Ter) rs2047909739
NM_003611.3(OFD1):c.237_243delinsGCCTA (p.Asp80fs) rs2146913390
NM_003611.3(OFD1):c.2387+1G>A rs2047914412
NM_003611.3(OFD1):c.2387+1G>C rs2047914412
NM_003611.3(OFD1):c.2388-1G>A
NM_003611.3(OFD1):c.2484dup (p.Glu829Ter) rs2147060430
NM_003611.3(OFD1):c.2488+1G>A rs2147060461
NM_003611.3(OFD1):c.2600-5_2600del
NM_003611.3(OFD1):c.2638G>T (p.Glu880Ter)
NM_003611.3(OFD1):c.2735dup (p.Glu913fs) rs2048164566
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs) rs797044945
NM_003611.3(OFD1):c.2791_2795del (p.Lys931fs) rs1602942625
NM_003611.3(OFD1):c.2862dup (p.Glu955Ter) rs2147086302
NM_003611.3(OFD1):c.2868del (p.Pro957fs) rs2147086315
NM_003611.3(OFD1):c.312+1G>T rs1569102786
NM_003611.3(OFD1):c.412+1G>T rs1555901169
NM_003611.3(OFD1):c.412+2_412+5del
NM_003611.3(OFD1):c.442G>C (p.Ala148Pro)
NM_003611.3(OFD1):c.538GAT[1] (p.Asp181del) rs1131691889
NM_003611.3(OFD1):c.613_614delinsTATA (p.Arg205fs) rs1602826217
NM_003611.3(OFD1):c.655-8A>G rs1555902797
NM_003611.3(OFD1):c.929T>C (p.Phe310Ser) rs797044917
NM_003611.3(OFD1):c.935+1G>C
NM_003611.3(OFD1):c.991C>T (p.Gln331Ter) rs1555904005

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