ClinVar Miner

List of variants in gene OFD1 reported as pathogenic by GeneDx

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Total variants: 10
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HGVS dbSNP
NM_003611.3(OFD1):c.1007dup (p.Ser337fs) rs749448671
NM_003611.3(OFD1):c.1189_1192AATC[1] (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.1221+1_1221+2del rs1131691619
NM_003611.3(OFD1):c.1840del (p.Ala614fs) rs1555906894
NM_003611.3(OFD1):c.2656del (p.Gln886fs) rs886041992
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter) rs863225212
NM_003611.3(OFD1):c.549dup (p.Ala184fs) rs1057518526
NM_003611.3(OFD1):c.72C>A (p.Tyr24Ter) rs886041737
NM_003611.3(OFD1):c.875_876AT[1] (p.Met293fs) rs312262858
NM_003611.3(OFD1):c.967del (p.Ser323fs) rs780268478

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