ClinVar Miner

List of variants in gene OFD1 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_003611.3(OFD1):c.1129+16A>G rs3815049 0.28069
NM_003611.3(OFD1):c.2387+11C>T rs140369491 0.02280
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884 0.00637
NM_003611.3(OFD1):c.1020G>A (p.Glu340=) rs5979959 0.00630
NM_003611.3(OFD1):c.2929-18C>T rs180940027 0.00601
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu) rs61746932 0.00584
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_003611.3(OFD1):c.517+20T>C rs139112266 0.00200
NM_003611.3(OFD1):c.1654+8A>G rs200767363 0.00184
NM_003611.3(OFD1):c.1654+14T>A rs192720874 0.00131
NM_003611.3(OFD1):c.2398A>G (p.Arg800Gly) rs139406798 0.00049
NM_003611.3(OFD1):c.1543-19C>G rs201761130 0.00041
NM_003611.3(OFD1):c.919G>A (p.Val307Ile) rs139444990 0.00041
NM_003611.3(OFD1):c.276T>C (p.Ser92=) rs201675886 0.00034
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920 0.00024
NM_003611.3(OFD1):c.1730A>G (p.Asn577Ser) rs200465596 0.00017
NM_003611.3(OFD1):c.781G>A (p.Val261Ile) rs149733425 0.00011
NM_003611.3(OFD1):c.936-2A>G rs199902986 0.00011
NM_003611.3(OFD1):c.2260+8A>G rs768452237 0.00007
NM_003611.3(OFD1):c.451C>T (p.His151Tyr) rs137993158 0.00006
NM_003611.3(OFD1):c.1347A>G (p.Ala449=) rs151287373 0.00005
NM_003611.3(OFD1):c.567G>A (p.Gln189=) rs375104416 0.00005
NM_003611.3(OFD1):c.858G>A (p.Arg286=) rs778507612 0.00005
NM_003611.3(OFD1):c.1015G>A (p.Glu339Lys) rs1374240720 0.00004
NM_003611.3(OFD1):c.2996+25C>G rs369183561 0.00004
NM_003611.3(OFD1):c.1837A>G (p.Thr613Ala) rs775062213 0.00002
NM_003611.3(OFD1):c.1111G>A (p.Asp371Asn) rs373202088 0.00001
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile) rs773224811 0.00001
NM_003611.3(OFD1):c.112-4C>G rs1006144968
NM_003611.3(OFD1):c.1130-5_1130-4del rs759385204
NM_003611.3(OFD1):c.1268_1272del (p.Gln423fs)
NM_003611.3(OFD1):c.1412G>C (p.Arg471Pro)
NM_003611.3(OFD1):c.1702C>T (p.Arg568Cys)
NM_003611.3(OFD1):c.1706C>G (p.Ser569Cys)
NM_003611.3(OFD1):c.1861C>T (p.Pro621Ser) rs1555906903
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.2119C>T (p.Leu707Phe)
NM_003611.3(OFD1):c.2238C>T (p.Leu746=)
NM_003611.3(OFD1):c.2239G>C (p.Glu747Gln)
NM_003611.3(OFD1):c.2488+14_2488+19del rs781190242
NM_003611.3(OFD1):c.2508G>A (p.Arg836=)
NM_003611.3(OFD1):c.2758-2A>T
NM_003611.3(OFD1):c.442G>C (p.Ala148Pro)
NM_003611.3(OFD1):c.675C>G (p.Thr225=) rs781665189
NM_003611.3(OFD1):c.934T>C (p.Leu312=)
NM_003611.3(OFD1):c.935+688G>A
NM_003611.3(OFD1):c.935+8A>T

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