ClinVar Miner

List of variants in gene OFD1 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_003611.3(OFD1):c.412+264C>A rs868585834 0.04841
NM_003611.3(OFD1):c.2758-53A>C rs144401718 0.02263
NM_003611.3(OFD1):c.1412-411G>A rs6633319 0.01656
NM_003611.3(OFD1):c.829-287A>T rs761965435 0.01579
NM_003611.3(OFD1):c.2489-90G>A rs16979187 0.01442
NM_003611.3(OFD1):c.829-254G>T rs141380452 0.01420
NM_003611.3(OFD1):c.1411+240C>T rs151068148 0.01334
NM_003611.3(OFD1):c.2997-29A>G rs148787280 0.01301
NM_003611.3(OFD1):c.*123T>G rs182746098 0.01160
NM_003611.3(OFD1):c.1129+208A>G rs143221184 0.01042
NM_003611.3(OFD1):c.2260+160C>G rs151255070 0.00966
NM_003611.3(OFD1):c.412+281A>C rs116542198 0.00826
NM_003611.3(OFD1):c.517+298C>G rs143016744 0.00755
NM_003611.3(OFD1):c.2388-188A>T rs147342417 0.00716
NM_003611.3(OFD1):c.313-175A>G rs185739141 0.00701
NM_003611.3(OFD1):c.2996+81T>C rs190979841 0.00683
NM_003611.3(OFD1):c.1654+336G>A rs141147258 0.00617
NM_003611.3(OFD1):c.1654+191T>G rs138721221 0.00605
NM_003611.3(OFD1):c.413-263G>A rs148137087 0.00401
NM_003611.3(OFD1):c.2757+52C>T rs189935382 0.00301
NM_003611.3(OFD1):c.517+20T>C rs139112266 0.00193
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823 0.00170
NM_003611.3(OFD1):c.1654+14T>A rs192720874 0.00131
NM_003611.3(OFD1):c.2996+34A>C rs373123585 0.00128
NM_003611.3(OFD1):c.2261-24G>A rs146759174 0.00085
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.2376G>A (p.Glu792=) rs183241931 0.00026
NM_003611.3(OFD1):c.1129+8T>A rs199572133 0.00022
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.1536A>G (p.Gln512=) rs138532127 0.00011
NM_003611.3(OFD1):c.935+12A>G rs199773671 0.00010
NM_003611.3(OFD1):c.1930C>T (p.Arg644Cys) rs185831378 0.00006
NM_003611.3(OFD1):c.2078G>A (p.Gly693Glu) rs754615597 0.00002
NM_003611.3(OFD1):c.2600-5A>G rs1555908520 0.00001
NM_003611.3(OFD1):c.2929-42C>A rs746822880 0.00001
NM_003611.3(OFD1):c.1055+187C>G rs190715863
NM_003611.3(OFD1):c.1055+214C>A rs151120669
NM_003611.3(OFD1):c.1543-147dup rs201339023
NM_003611.3(OFD1):c.412+282del rs751700372

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