ClinVar Miner

List of variants in gene DLD reported as benign for carbohydrate metabolism disease

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000108.5(DLD):c.*487C>T rs4518 0.66588
NM_000108.5(DLD):c.*978T>C rs2158835 0.66205
NM_000108.5(DLD):c.*1451T>C rs2108223 0.66202
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_000108.5(DLD):c.199-108T>C rs10250718 0.66040
NM_000108.5(DLD):c.*207G>A rs4564 0.65906
NM_000108.5(DLD):c.*18A>T rs8721 0.31455
NM_000108.5(DLD):c.438+83G>A rs17412104 0.31437
NM_000108.5(DLD):c.*1688G>A rs8440 0.31157
NM_000108.5(DLD):c.*28G>T rs17154615 0.10964
NM_000108.5(DLD):c.684+7G>A rs75123588 0.06110
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921 0.04354
NM_000108.5(DLD):c.685-14T>A rs80111449 0.02691
NM_000108.5(DLD):c.*855C>T rs116055514 0.01464
NM_000108.5(DLD):c.675T>C (p.Gly225=) rs73726765 0.01233
NM_000108.5(DLD):c.*648G>A rs57801571 0.00985
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664 0.00985
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762 0.00944
NM_000108.5(DLD):c.*1300A>G rs77095705 0.00939
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495 0.00918
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312 0.00666
NM_000108.5(DLD):c.*887T>C rs16872396 0.00569
NM_000108.5(DLD):c.*1074C>G rs149275540 0.00531
NM_000108.5(DLD):c.*474T>C rs16872391 0.00479
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_000108.5(DLD):c.1236+13A>G rs2701026 0.00341
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432 0.00241
NM_000108.5(DLD):c.826A>T (p.Thr276Ser) rs148873419 0.00175
NM_000108.5(DLD):c.338-18T>A rs184851386 0.00160
NM_000108.5(DLD):c.1464+11A>G rs184949878 0.00088
NM_000108.5(DLD):c.1395T>C (p.Asn465=) rs76313180 0.00014
NM_000108.5(DLD):c.*470G>T rs111619940
NM_000108.5(DLD):c.*947G>T rs7777259
NM_000108.5(DLD):c.1237-15_1237-14del
NM_000108.5(DLD):c.267+15del rs886061906
NM_000108.5(DLD):c.40-5del
NM_000108.5(DLD):c.439-7del
NM_000108.5(DLD):c.685-14del rs759170630

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