ClinVar Miner

List of variants in gene OFD1 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 11
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HGVS dbSNP
NM_003611.2(OFD1):c.1099C>G (p.Arg367Gly) rs312262863
NM_003611.2(OFD1):c.1399C>T (p.Arg467Cys) rs140561107
NM_003611.2(OFD1):c.1412-11dupT rs36052228
NM_003611.2(OFD1):c.2168C>T (p.Ser723Leu) rs746300545
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.2996+10T>C rs769127095
NM_003611.2(OFD1):c.54A>G (p.Glu18=) rs147114577
NM_003611.2(OFD1):c.936-2A>G rs199902986
NM_003611.3(OFD1):c.2022C>A (p.His674Gln)
NM_003611.3(OFD1):c.730A>G (p.Met244Val)

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