ClinVar Miner

List of variants in gene OFD1 reported as uncertain significance

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Total variants: 60
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HGVS dbSNP
NM_003611.2(OFD1):c.(?_-1)_(*1_?)dup
NM_003611.2(OFD1):c.-359-?_*253+?dup
NM_003611.2(OFD1):c.1007dupA (p.Ser337Glufs) rs749448671
NM_003611.2(OFD1):c.1099C>G (p.Arg367Gly) rs312262863
NM_003611.2(OFD1):c.1102C>G (p.Leu368Val) rs192285113
NM_003611.2(OFD1):c.1294A>G (p.Lys432Glu) rs142352920
NM_003611.2(OFD1):c.1399C>A (p.Arg467Ser) rs140561107
NM_003611.2(OFD1):c.1399C>T (p.Arg467Cys) rs140561107
NM_003611.2(OFD1):c.1412-11dupT rs36052228
NM_003611.2(OFD1):c.1427C>T (p.Ala476Val) rs1189655158
NM_003611.2(OFD1):c.1468G>A (p.Glu490Lys) rs1454731121
NM_003611.2(OFD1):c.1469A>G (p.Glu490Gly) rs754484224
NM_003611.2(OFD1):c.1634A>G (p.Gln545Arg) rs373792491
NM_003611.2(OFD1):c.1654+5G>C rs1555906316
NM_003611.2(OFD1):c.1861C>T (p.Pro621Ser) rs1555906903
NM_003611.2(OFD1):c.1918C>G (p.Gln640Glu) rs1085307577
NM_003611.2(OFD1):c.195A>C (p.Glu65Asp) rs1060500184
NM_003611.2(OFD1):c.1999G>A (p.Ala667Thr) rs1394450537
NM_003611.2(OFD1):c.2025G>T (p.Leu675Phe) rs149473481
NM_003611.2(OFD1):c.2030A>T (p.Glu677Val) rs370183911
NM_003611.2(OFD1):c.2033C>G (p.Ala678Gly) rs143954823
NM_003611.2(OFD1):c.2060C>T (p.Pro687Leu) rs146251034
NM_003611.2(OFD1):c.2074T>A (p.Phe692Ile)
NM_003611.2(OFD1):c.2140G>A (p.Val714Met) rs797045845
NM_003611.2(OFD1):c.2168C>T (p.Ser723Leu) rs746300545
NM_003611.2(OFD1):c.2177G>A (p.Arg726His)
NM_003611.2(OFD1):c.2192C>T (p.Ser731Phe)
NM_003611.2(OFD1):c.2197C>T (p.Arg733Cys)
NM_003611.2(OFD1):c.2260+2dup rs1131691821
NM_003611.2(OFD1):c.2297G>T (p.Cys766Phe)
NM_003611.2(OFD1):c.230T>C (p.Leu77Ser) rs1555900746
NM_003611.2(OFD1):c.231A>C (p.Leu77Phe) rs587784232
NM_003611.2(OFD1):c.2408A>G (p.Glu803Gly)
NM_003611.2(OFD1):c.2482T>G (p.Phe828Val)
NM_003611.2(OFD1):c.2584T>G (p.Ser862Ala) rs797045846
NM_003611.2(OFD1):c.2619T>A (p.Ile873=) rs797045847
NM_003611.2(OFD1):c.2631G>A (p.Lys877=) rs797045848
NM_003611.2(OFD1):c.26C>T (p.Thr9Ile) rs1555900190
NM_003611.2(OFD1):c.2700C>A (p.Asn900Lys) rs770634301
NM_003611.2(OFD1):c.2719A>G (p.Arg907Gly)
NM_003611.2(OFD1):c.2758-4A>G rs1555908820
NM_003611.2(OFD1):c.276T>C (p.Ser92=) rs201675886
NM_003611.2(OFD1):c.2981G>A (p.Ser994Asn) rs1555909002
NM_003611.2(OFD1):c.2996+10T>C rs769127095
NM_003611.2(OFD1):c.3011C>G (p.Ser1004Cys) rs1060500182
NM_003611.2(OFD1):c.313-3A>G rs1064796910
NM_003611.2(OFD1):c.324G>A (p.Met108Ile)
NM_003611.2(OFD1):c.338A>G (p.Gln113Arg) rs1555901135
NM_003611.2(OFD1):c.453_455delTCA (p.His151del)
NM_003611.2(OFD1):c.54A>G (p.Glu18=) rs147114577
NM_003611.2(OFD1):c.610A>G (p.Lys204Glu) rs1060500183
NM_003611.2(OFD1):c.634C>T (p.Arg212Trp)
NM_003611.2(OFD1):c.829-6A>C rs372044938
NM_003611.2(OFD1):c.892G>A (p.Gly298Arg) rs778349684
NM_003611.2(OFD1):c.89G>A (p.Arg30Gln) rs1060500185
NM_003611.2(OFD1):c.919G>A (p.Val307Ile)
NM_003611.2(OFD1):c.936-2A>G rs199902986
NM_003611.3(OFD1):c.2022C>A (p.His674Gln)
NM_003611.3(OFD1):c.227C>T (p.Ser76Phe)
NM_003611.3(OFD1):c.730A>G (p.Met244Val)

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