ClinVar Miner

List of variants in gene OFD1 reported as benign for ciliopathy

Included ClinVar conditions (273):
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Gene type:
ClinVar version:
Total variants: 85
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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.2663A>C (p.Lys888Thr) rs149647255 0.00381
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_003611.3(OFD1):c.2044A>C (p.Ile682Leu) rs148239437 0.00227
NM_003611.3(OFD1):c.517+20T>C rs139112266 0.00200
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823 0.00187
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.1654+9C>T rs200007045 0.00044
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.2376G>A (p.Glu792=) rs183241931 0.00026
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920 0.00024
NM_003611.3(OFD1):c.1129+8T>A rs199572133 0.00023
NM_003611.3(OFD1):c.2260+12G>A rs375507459 0.00023
NM_003611.3(OFD1):c.2524G>A (p.Gly842Arg) rs146047094 0.00023
NM_003611.3(OFD1):c.1730A>G (p.Asn577Ser) rs200465596 0.00017
NM_003611.3(OFD1):c.2488+13A>G rs369270604 0.00017
NM_003611.3(OFD1):c.2235C>T (p.Ser745=) rs372503752 0.00015
NM_003611.3(OFD1):c.2959C>A (p.Leu987Ile) rs148543618 0.00014
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034 0.00013
NM_003611.3(OFD1):c.1536A>G (p.Gln512=) rs138532127 0.00011
NM_003611.3(OFD1):c.1961G>A (p.Arg654Gln) rs746612831 0.00011
NM_003611.3(OFD1):c.2600-4T>G rs753195130 0.00011
NM_003611.3(OFD1):c.780C>T (p.Leu260=) rs368900892 0.00011
NM_003611.3(OFD1):c.781G>A (p.Val261Ile) rs149733425 0.00011
NM_003611.3(OFD1):c.795G>A (p.Lys265=) rs745443262 0.00011
NM_003611.3(OFD1):c.936-2A>G rs199902986 0.00011
NM_003611.3(OFD1):c.935+12A>G rs199773671 0.00010
NM_003611.3(OFD1):c.1271A>G (p.Asn424Ser) rs532274932 0.00009
NM_003611.3(OFD1):c.476T>C (p.Met159Thr) rs141708295 0.00009
NM_003611.3(OFD1):c.1742G>A (p.Cys581Tyr) rs201230660 0.00007
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln) rs146930931 0.00007
NM_003611.3(OFD1):c.2260+15C>G rs768776950 0.00007
NM_003611.3(OFD1):c.1930C>T (p.Arg644Cys) rs185831378 0.00006
NM_003611.3(OFD1):c.2992G>A (p.Glu998Lys) rs772233258 0.00006
NM_003611.3(OFD1):c.432A>G (p.Leu144=) rs759705433 0.00006
NM_003611.3(OFD1):c.451C>T (p.His151Tyr) rs137993158 0.00006
NM_003611.3(OFD1):c.1460G>A (p.Arg487Gln) rs147104722 0.00005
NM_003611.3(OFD1):c.2489-17A>C rs182042414 0.00005
NM_003611.3(OFD1):c.2726G>A (p.Arg909Gln) rs371848382 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.1469A>G (p.Glu490Gly) rs754484224 0.00004
NM_003611.3(OFD1):c.2523C>T (p.Gly841=) rs757258869 0.00004
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu) rs756793358 0.00004
NM_003611.3(OFD1):c.1102C>G (p.Leu368Val) rs192285113 0.00003
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) rs529916753 0.00003
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val) rs779051357 0.00003
NM_003611.3(OFD1):c.2953G>A (p.Gly985Ser) rs757837343 0.00003
NM_003611.3(OFD1):c.688A>G (p.Ile230Val) rs770131832 0.00003
NM_003611.3(OFD1):c.1400G>A (p.Arg467His) rs375577267 0.00002
NM_003611.3(OFD1):c.1703G>A (p.Arg568His) rs376012267 0.00002
NM_003611.3(OFD1):c.1837A>G (p.Thr613Ala) rs775062213 0.00002
NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe) rs149473481 0.00002
NM_003611.3(OFD1):c.2305A>G (p.Arg769Gly) rs759933503 0.00002
NM_003611.3(OFD1):c.2327C>G (p.Thr776Ser) rs1602907726 0.00002
NM_003611.3(OFD1):c.382G>C (p.Val128Leu) rs766600036 0.00002
NM_003611.3(OFD1):c.569G>A (p.Arg190His) rs150560046 0.00002
NM_003611.3(OFD1):c.1479A>C (p.Ile493=) rs746039988 0.00001
NM_003611.3(OFD1):c.1594G>A (p.Val532Ile) rs780521580 0.00001
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile) rs773224811 0.00001
NM_003611.3(OFD1):c.2559C>T (p.Asp853=) rs1398505825 0.00001
NM_003611.3(OFD1):c.359C>T (p.Thr120Ile) rs777207192 0.00001
NM_003611.3(OFD1):c.788G>A (p.Arg263Gln) rs146279923 0.00001
NM_003611.3(OFD1):c.984T>G (p.Leu328=) rs61734977 0.00001
NM_003611.3(OFD1):c.1129+15dup
NM_003611.3(OFD1):c.1412-11del rs36052228
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.2179G>A (p.Gly727Arg)
NM_003611.3(OFD1):c.2488+14_2488+19del rs781190242
NM_003611.3(OFD1):c.2996+16AC[2] rs761270089
NM_003611.3(OFD1):c.3027C>G (p.Asp1009Glu) rs758646234
NM_003611.3(OFD1):c.3027C>T (p.Asp1009=) rs758646234
NM_003611.3(OFD1):c.396T>A (p.Asp132Glu)
NM_003611.3(OFD1):c.517+13_517+14delinsGC rs2146959704
NM_003611.3(OFD1):c.675C>G (p.Thr225=) rs781665189

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