ClinVar Miner

List of variants in gene OFD1 reported as uncertain significance for Inborn genetic diseases

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_003611.3(OFD1):c.1490A>C (p.His497Pro) rs772474080 0.00004
NM_003611.3(OFD1):c.2030A>T (p.Glu677Val) rs370183911 0.00003
NM_003611.3(OFD1):c.1063C>T (p.Leu355Phe)
NM_003611.3(OFD1):c.1183G>A (p.Glu395Lys)
NM_003611.3(OFD1):c.124A>G (p.Asn42Asp)
NM_003611.3(OFD1):c.1399C>A (p.Arg467Ser) rs140561107
NM_003611.3(OFD1):c.140A>G (p.Glu47Gly)
NM_003611.3(OFD1):c.1668A>C (p.Glu556Asp)
NM_003611.3(OFD1):c.2054G>A (p.Ser685Asn)
NM_003611.3(OFD1):c.2150T>C (p.Leu717Pro)
NM_003611.3(OFD1):c.2609A>G (p.Gln870Arg)
NM_003611.3(OFD1):c.2627A>G (p.Gln876Arg)
NM_003611.3(OFD1):c.2775_2777del (p.Leu926del)
NM_003611.3(OFD1):c.2966A>T (p.Asp989Val)
NM_003611.3(OFD1):c.3025G>C (p.Asp1009His)
NM_003611.3(OFD1):c.318T>G (p.Phe106Leu)
NM_003611.3(OFD1):c.681A>G (p.Ile227Met)
NM_003611.3(OFD1):c.731T>C (p.Met244Thr)

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