ClinVar Miner

List of variants in gene OFD1 reported by GeneDx

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Total variants: 34
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HGVS dbSNP
NM_003611.2(OFD1):c.*3A>G rs183202009
NM_003611.2(OFD1):c.1007dupA (p.Ser337Glufs) rs749448671
NM_003611.2(OFD1):c.1020G>A (p.Glu340=) rs5979959
NM_003611.2(OFD1):c.1193_1196delAATC (p.Gln398Leufs) rs312262868
NM_003611.2(OFD1):c.1221+1_1221+2delGT rs1131691619
NM_003611.2(OFD1):c.1536A>G (p.Gln512=) rs138532127
NM_003611.2(OFD1):c.1654+14T>A rs192720874
NM_003611.2(OFD1):c.1840delG (p.Ala614Hisfs) rs1555906894
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.1930C>T (p.Arg644Cys) rs185831378
NM_003611.2(OFD1):c.2033C>G (p.Ala678Gly) rs143954823
NM_003611.2(OFD1):c.2052C>G (p.Ser684=) rs61742891
NM_003611.2(OFD1):c.2052C>T (p.Ser684=) rs61742891
NM_003611.2(OFD1):c.2260+2dup rs1131691821
NM_003611.2(OFD1):c.2387+11C>T rs140369491
NM_003611.2(OFD1):c.2398A>G (p.Arg800Gly) rs139406798
NM_003611.2(OFD1):c.2488+13A>G rs369270604
NM_003611.2(OFD1):c.2600-5A>G rs1555908520
NM_003611.2(OFD1):c.2656delC (p.Gln886Lysfs) rs886041992
NM_003611.2(OFD1):c.2668C>T (p.Arg890Ter) rs863225212
NM_003611.2(OFD1):c.2929-18C>T rs180940027
NM_003611.2(OFD1):c.2981G>A (p.Ser994Asn) rs1555909002
NM_003611.2(OFD1):c.313-3A>G rs1064796910
NM_003611.2(OFD1):c.517+20T>C rs139112266
NM_003611.2(OFD1):c.541_543delGAT (p.Asp181del) rs1131691889
NM_003611.2(OFD1):c.549dupT (p.Ala184Cysfs) rs1057518526
NM_003611.2(OFD1):c.54A>G (p.Glu18=) rs147114577
NM_003611.2(OFD1):c.655-8A>G rs1555902797
NM_003611.2(OFD1):c.714T>C (p.Tyr238=) rs139848884
NM_003611.2(OFD1):c.72C>A (p.Tyr24Ter) rs886041737
NM_003611.2(OFD1):c.877_878delAT (p.Met293Glyfs) rs312262858
NM_003611.2(OFD1):c.967delA (p.Ser323Alafs) rs780268478
NM_003611.2(OFD1):c.991C>T (p.Gln331Ter) rs1555904005

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