ClinVar Miner

List of variants in gene OFD1 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 26
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HGVS dbSNP
NM_003611.3(OFD1):c.1020G>A (p.Glu340=) rs5979959
NM_003611.3(OFD1):c.1102C>G (p.Leu368Val) rs192285113
NM_003611.3(OFD1):c.1129+16A>G rs3815049
NM_003611.3(OFD1):c.1189_1192AATC[1] (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.12+28G>C rs181620366
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu) rs61746932
NM_003611.3(OFD1):c.1332del (p.Lys444fs) rs587784231
NM_003611.3(OFD1):c.1469A>G (p.Glu490Gly) rs754484224
NM_003611.3(OFD1):c.1654+5G>C rs1555906316
NM_003611.3(OFD1):c.1654+8A>G rs200767363
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245
NM_003611.3(OFD1):c.198G>A (p.Gly66=) rs776103115
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823
NM_003611.3(OFD1):c.2052C>T (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2140G>A (p.Val714Met) rs797045845
NM_003611.3(OFD1):c.2260+8A>G rs768452237
NM_003611.3(OFD1):c.231A>C (p.Leu77Phe) rs587784232
NM_003611.3(OFD1):c.2376G>A (p.Glu792=) rs183241931
NM_003611.3(OFD1):c.2387+11C>T rs140369491
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala) rs797045846
NM_003611.3(OFD1):c.2619T>A (p.Ile873=) rs797045847
NM_003611.3(OFD1):c.2631G>A (p.Lys877=) rs797045848
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) rs149647255
NM_003611.3(OFD1):c.2758-4A>G rs1555908820
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884
NM_003611.3(OFD1):c.875_876AT[1] (p.Met293fs) rs312262858

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