ClinVar Miner

List of variants in gene DHODH reported as uncertain significance for congenital limb malformation

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001361.5(DHODH):c.949C>T (p.Arg317Trp) rs192923495 0.00088
NM_001361.5(DHODH):c.*936T>C rs763009216 0.00053
NM_001361.5(DHODH):c.682G>A (p.Glu228Lys) rs201202896 0.00051
NM_001361.5(DHODH):c.804C>T (p.Ala268=) rs374538940 0.00048
NM_001361.5(DHODH):c.890G>A (p.Arg297His) rs200181357 0.00045
NM_001361.5(DHODH):c.518-11G>A rs201023112 0.00028
NM_001361.5(DHODH):c.753C>A (p.Val251=) rs373893426 0.00021
NM_001361.5(DHODH):c.*980A>G rs766237954 0.00016
NM_001361.5(DHODH):c.570C>T (p.Ala190=) rs149123373 0.00016
NM_001361.5(DHODH):c.*841G>A rs764720601 0.00014
NM_001361.5(DHODH):c.655G>A (p.Gly219Arg) rs369556950 0.00013
NM_001361.5(DHODH):c.881G>A (p.Gly294Asp) rs369181023 0.00013
NM_001361.5(DHODH):c.*819A>G rs886052282 0.00010
NM_001361.5(DHODH):c.606C>T (p.Gly202=) rs573177564 0.00007
NM_001361.5(DHODH):c.*795C>T rs1042981090 0.00006
NM_001361.5(DHODH):c.454G>A (p.Gly152Arg) rs267606766 0.00006
NM_001361.5(DHODH):c.154G>C (p.Glu52Gln) rs368395651 0.00005
NM_001361.5(DHODH):c.*645T>C rs1324665374 0.00004
NM_001361.5(DHODH):c.104G>A (p.Arg35His) rs199675109 0.00004
NM_001361.5(DHODH):c.517+8G>A rs758925798 0.00004
NM_001361.5(DHODH):c.492G>T (p.Gln164His) rs768224976 0.00003
NM_001361.5(DHODH):c.869C>T (p.Ala290Val) rs199626701 0.00003
NM_001361.5(DHODH):c.22-11C>T rs770515591 0.00001
NM_001361.5(DHODH):c.546G>T (p.Gly182=) rs954515669 0.00001
NM_001361.5(DHODH):c.666C>G (p.Ser222Arg) rs528598713 0.00001
NM_001361.5(DHODH):c.681C>T (p.Ala227=) rs776932166 0.00001
NM_001361.5(DHODH):c.807T>A (p.Ser269Arg) rs886052277 0.00001
NM_001361.5(DHODH):c.820T>C (p.Leu274=) rs886052278 0.00001
NM_001361.5(DHODH):c.*1035_*1038del rs886052283
NM_001361.5(DHODH):c.*500G>A rs886052281
NM_001361.5(DHODH):c.14A>G (p.His5Arg) rs1430616655
NM_001361.5(DHODH):c.262C>T (p.Arg88Ter)
NM_001361.5(DHODH):c.498G>A (p.Lys166=) rs199920621
NM_001361.5(DHODH):c.505A>C (p.Lys169Gln) rs1243279715
NM_001361.5(DHODH):c.616G>A (p.Asp206Asn)
NM_001361.5(DHODH):c.72C>G (p.Phe24Leu) rs61753576
NM_001361.5(DHODH):c.731G>A (p.Arg244Gln)
NM_001361.5(DHODH):c.73G>A (p.Ala25Thr) rs200549060
NM_001361.5(DHODH):c.959A>C (p.Tyr320Ser) rs886052279
NM_001361.5(DHODH):c.959A>G (p.Tyr320Cys) rs886052279
NM_001361.5(DHODH):c.95G>T (p.Gly32Val)
NM_001361.5(DHODH):c.973+11C>T rs2041242918

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