ClinVar Miner

List of variants in gene OFD1 studied for not provided

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Total variants: 39
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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.1099C>G (p.Arg367Gly) rs312262863
NM_003611.2(OFD1):c.111+2T>C rs312262809
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.1332del (p.Lys444Asnfs) rs587784231
NM_003611.2(OFD1):c.1399C>T (p.Arg467Cys) rs140561107
NM_003611.2(OFD1):c.1543-2A>C rs398123809
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.2033C>G (p.Ala678Gly) rs143954823
NM_003611.2(OFD1):c.2060C>T (p.Pro687Leu) rs146251034
NM_003611.2(OFD1):c.2168C>T (p.Ser723Leu) rs746300545
NM_003611.2(OFD1):c.230T>C (p.Leu77Ser) rs1555900746
NM_003611.2(OFD1):c.2656delC (p.Gln886Lysfs) rs886041992
NM_003611.2(OFD1):c.2668C>T (p.Arg890Ter) rs863225212
NM_003611.2(OFD1):c.2700C>A (p.Asn900Lys) rs770634301
NM_003611.2(OFD1):c.276T>C (p.Ser92=) rs201675886
NM_003611.2(OFD1):c.2929-18C>T rs180940027
NM_003611.2(OFD1):c.2981G>A (p.Ser994Asn) rs1555909002
NM_003611.2(OFD1):c.2996+10T>C rs769127095
NM_003611.2(OFD1):c.313-3A>G rs1064796910
NM_003611.2(OFD1):c.458_459dupCT (p.Lys154Leufs) rs398123810
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.72C>A (p.Tyr24Ter) rs886041737
NM_003611.2(OFD1):c.829-6A>C rs372044938
NM_003611.2(OFD1):c.877_878delAT (p.Met293Glyfs) rs312262858
NM_003611.2(OFD1):c.919G>A (p.Val307Ile)
NM_003611.2(OFD1):c.936-2A>G rs199902986
NM_003611.2(OFD1):c.967delA (p.Ser323Alafs) rs780268478
NM_003611.2(OFD1):c.991C>T (p.Gln331Ter) rs1555904005
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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