ClinVar Miner

List of variants in gene IDH3B studied for retinitis pigmentosa

Included ClinVar conditions (154):
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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_006899.5(IDH3B):c.118-3G>C rs2073193 0.66092
NM_006899.5(IDH3B):c.636G>A (p.Lys212=) rs114253155 0.01866
NM_006899.5(IDH3B):c.1047G>A (p.Val349=) rs75848934 0.00818
NM_006899.5(IDH3B):c.117+6C>A rs191680997 0.00388
NM_006899.5(IDH3B):c.684G>A (p.Leu228=) rs143110856 0.00041
NM_006899.5(IDH3B):c.252C>T (p.His84=) rs139159095 0.00038
NM_006899.5(IDH3B):c.624G>C (p.Lys208Asn) rs148250924 0.00026
NM_006899.5(IDH3B):c.916-10C>T rs202127751 0.00026
NM_006899.5(IDH3B):c.337+11C>T rs117928032 0.00024
NM_006899.5(IDH3B):c.*177A>G rs367573436 0.00016
NM_006899.5(IDH3B):c.900C>T (p.Tyr300=) rs201237064 0.00014
NM_006899.5(IDH3B):c.73G>A (p.Gly25Ser) rs112208578 0.00012
NM_006899.5(IDH3B):c.1010+8A>G rs200242149 0.00010
NM_006899.5(IDH3B):c.1132G>A (p.Gly378Ser) rs376112899 0.00006
NM_006899.5(IDH3B):c.830T>C (p.Ile277Thr) rs761437016 0.00005
NM_006899.5(IDH3B):c.*139G>A rs1047114761 0.00004
NM_006899.5(IDH3B):c.118-6A>G rs532273295 0.00004
NM_006899.5(IDH3B):c.426A>G (p.Val142=) rs760619105 0.00004
NM_006899.5(IDH3B):c.857G>A (p.Gly286Glu) rs774471320 0.00003
NM_006899.5(IDH3B):c.1082G>A (p.Arg361Gln) rs145651330 0.00002
NM_006899.5(IDH3B):c.399-12G>T rs781697514 0.00002
NM_006899.5(IDH3B):c.1145C>G (p.Thr382Ser) rs764873315 0.00001
NM_006899.5(IDH3B):c.160C>G (p.Leu54Val) rs767152068 0.00001
NM_006899.5(IDH3B):c.161T>C (p.Leu54Pro) rs886056572 0.00001
NM_006899.5(IDH3B):c.338-10G>T rs754403242 0.00001
NM_006899.5(IDH3B):c.66A>G (p.Ala22=) rs886056573 0.00001
NM_006899.5(IDH3B):c.1014T>C (p.Leu338=) rs886056569
NM_006899.5(IDH3B):c.1061A>G (p.Lys354Arg) rs886056568
NM_006899.5(IDH3B):c.1115TCA[1] (p.Ile373del) rs781157150
NM_006899.5(IDH3B):c.16G>A (p.Gly6Arg) rs760454593
NM_006899.5(IDH3B):c.34C>T (p.Arg12Ter) rs745313320
NM_006899.5(IDH3B):c.395T>C (p.Leu132Pro) rs137853020
NM_006899.5(IDH3B):c.522G>T (p.Leu174=) rs778097475
NM_006899.5(IDH3B):c.589del (p.Ile197fs) rs1600169350
NM_006899.5(IDH3B):c.706G>C (p.Val236Leu) rs2086919311
NM_006899.5(IDH3B):c.768+1G>T rs1568548317
NM_006899.5(IDH3B):c.916-8C>T rs1412842843
NM_006899.5(IDH3B):c.916G>T (p.Gly306Cys) rs886056571
NM_006899.5(IDH3B):c.917G>A (p.Gly306Asp) rs886056570

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