ClinVar Miner

List of variants in gene OFD1 studied for not specified

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Total variants: 41
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HGVS dbSNP
NM_003611.3(OFD1):c.*3A>G rs183202009
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.1130-5_1130-4del rs759385204
NM_003611.3(OFD1):c.12+28G>C rs181620366
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu) rs61746932
NM_003611.3(OFD1):c.1469A>G (p.Glu490Gly) rs754484224
NM_003611.3(OFD1):c.1536A>G (p.Gln512=) rs138532127
NM_003611.3(OFD1):c.1543-19C>G rs201761130
NM_003611.3(OFD1):c.1634A>G (p.Gln545Arg) rs373792491
NM_003611.3(OFD1):c.1654+14T>A rs192720874
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.1930C>T (p.Arg644Cys) rs185831378
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.2044A>C (p.Ile682Leu) rs148239437
NM_003611.3(OFD1):c.2052C>G (p.Ser684=) rs61742891
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+2dup rs1131691821
NM_003611.3(OFD1):c.2260+8A>G rs768452237
NM_003611.3(OFD1):c.2376G>A (p.Glu792=) rs183241931
NM_003611.3(OFD1):c.2387+11C>T rs140369491
NM_003611.3(OFD1):c.2398A>G (p.Arg800Gly) rs139406798
NM_003611.3(OFD1):c.2488+13A>G rs369270604
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala) rs797045846
NM_003611.3(OFD1):c.2600-5A>G rs1555908520
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.2929-18C>T rs180940027
NM_003611.3(OFD1):c.2996+25C>G rs369183561
NM_003611.3(OFD1):c.338A>G (p.Gln113Arg) rs1555901135
NM_003611.3(OFD1):c.517+20T>C rs139112266
NM_003611.3(OFD1):c.54A>G (p.Glu18=) rs147114577
NM_003611.3(OFD1):c.675C>G (p.Thr225=) rs781665189
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884

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