ClinVar Miner

List of variants in gene DHDDS reported as uncertain significance for Retinitis pigmentosa

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Gene type:
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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_205861.3(DHDDS):c.*769G>T rs80313266 0.01717
NM_205861.3(DHDDS):c.*2045T>A rs76326144 0.00381
NM_205861.3(DHDDS):c.*128C>G rs146706631 0.00352
NM_205861.3(DHDDS):c.140G>A (p.Arg47Gln) rs149949619 0.00274
NM_205861.3(DHDDS):c.*515G>T rs747837144 0.00071
NM_205861.3(DHDDS):c.*480A>G rs552046225 0.00056
NM_205861.3(DHDDS):c.*988C>T rs762077449 0.00050
NM_205861.3(DHDDS):c.*1769G>A rs74698108 0.00048
NM_205861.3(DHDDS):c.-53T>G rs375098683 0.00043
NM_205861.3(DHDDS):c.*2104A>T rs182595109 0.00029
NM_205861.3(DHDDS):c.*1343C>T rs571845250 0.00025
NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu) rs141852437 0.00023
NM_205861.3(DHDDS):c.*464T>C rs567665048 0.00021
NM_205861.3(DHDDS):c.*1497C>T rs766309543 0.00014
NM_205861.3(DHDDS):c.*737C>A rs573311409 0.00013
NM_205861.3(DHDDS):c.990T>C (p.Thr330=) rs773902080 0.00013
NM_205861.3(DHDDS):c.*573C>T rs539236177 0.00011
NM_205861.3(DHDDS):c.*1705G>A rs1057515508 0.00008
NM_205861.3(DHDDS):c.*174G>T rs1022655060 0.00008
NM_205861.3(DHDDS):c.*433T>C rs180690900 0.00008
NM_205861.3(DHDDS):c.*1571A>C rs900974941 0.00007
NM_205861.3(DHDDS):c.*620C>T rs1057515470 0.00007
NM_205861.3(DHDDS):c.*109C>T rs1032593244 0.00005
NM_205861.3(DHDDS):c.*404C>G rs572009346 0.00005
NM_205861.3(DHDDS):c.*1439C>G rs980945484 0.00003
NM_205861.3(DHDDS):c.*1464C>T rs766594382 0.00003
NM_205861.3(DHDDS):c.*733T>C rs1055171536 0.00003
NM_205861.3(DHDDS):c.468C>T (p.Tyr156=) rs768075911 0.00002
NM_024887.3(DHDDS):c.-143C>T rs1011390170 0.00001
NM_205861.3(DHDDS):c.*210C>T rs1389894701 0.00001
NM_205861.3(DHDDS):c.*312C>T rs1057515469 0.00001
NM_205861.3(DHDDS):c.*986T>A rs1057515472 0.00001
NM_205861.3(DHDDS):c.157C>G (p.Gln53Glu) rs1057515434 0.00001
NM_205861.3(DHDDS):c.53A>G (p.Asn18Ser) rs922422245 0.00001
NM_205861.3(DHDDS):c.794G>A (p.Arg265Gln) rs771106680 0.00001
NM_205861.3(DHDDS):c.845T>C (p.Leu282Pro) rs775810457 0.00001
NM_205861.3(DHDDS):c.917G>A (p.Arg306Gln) rs543487813 0.00001
NM_205861.3(DHDDS):c.*1261C>T rs993797663
NM_205861.3(DHDDS):c.*1431C>T rs867968139
NM_205861.3(DHDDS):c.*1574C>T rs2075546722
NM_205861.3(DHDDS):c.*2069A>G rs573602803
NM_205861.3(DHDDS):c.*226C>G rs2075529207
NM_205861.3(DHDDS):c.*55C>T rs1057515504
NM_205861.3(DHDDS):c.*634G>A rs911133080
NM_205861.3(DHDDS):c.-37G>A rs2075117953
NM_205861.3(DHDDS):c.710T>G (p.Phe237Cys) rs1057515468
NM_205861.3(DHDDS):c.775G>A (p.Asp259Asn) rs1057515435
NM_205861.3(DHDDS):c.855G>T (p.Gly285=) rs928446379
NM_205861.3(DHDDS):c.893G>C (p.Arg298Pro) rs778103040

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