ClinVar Miner

List of variants in gene OFD1 reported as uncertain significance by Invitae

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Total variants: 20
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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.1294A>G (p.Lys432Glu) rs142352920
NM_003611.2(OFD1):c.1399C>A (p.Arg467Ser) rs140561107
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.195A>C (p.Glu65Asp) rs1060500184
NM_003611.2(OFD1):c.2030A>T (p.Glu677Val) rs370183911
NM_003611.2(OFD1):c.2168C>T (p.Ser723Leu) rs746300545
NM_003611.2(OFD1):c.2177G>A (p.Arg726His)
NM_003611.2(OFD1):c.2197C>T (p.Arg733Cys)
NM_003611.2(OFD1):c.2482T>G (p.Phe828Val)
NM_003611.2(OFD1):c.26C>T (p.Thr9Ile) rs1555900190
NM_003611.2(OFD1):c.2719A>G (p.Arg907Gly)
NM_003611.2(OFD1):c.3011C>G (p.Ser1004Cys) rs1060500182
NM_003611.2(OFD1):c.324G>A (p.Met108Ile)
NM_003611.2(OFD1):c.610A>G (p.Lys204Glu) rs1060500183
NM_003611.2(OFD1):c.892G>A (p.Gly298Arg) rs778349684
NM_003611.2(OFD1):c.89G>A (p.Arg30Gln) rs1060500185

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