ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP
NM_000108.5(DLD):c.*1640A>G
NM_000108.5(DLD):c.*1736T>C rs190655078
NM_000108.5(DLD):c.*1876G>A
NM_000108.5(DLD):c.*470G>A rs111619940
NM_000108.5(DLD):c.*474T>C
NM_000108.5(DLD):c.*887T>C
NM_000108.5(DLD):c.1005T>C (p.Gly335=) rs763878786
NM_000108.5(DLD):c.1011T>C (p.Ile337=) rs761507009
NM_000108.5(DLD):c.1014A>G (p.Pro338=)
NM_000108.5(DLD):c.1032A>G (p.Gln344=)
NM_000108.5(DLD):c.1047-13_1047-5del rs1462836154
NM_000108.5(DLD):c.1047-4G>T
NM_000108.5(DLD):c.1047-7_1047-4del
NM_000108.5(DLD):c.105C>T (p.Tyr35=) rs747810875
NM_000108.5(DLD):c.1101G>A (p.Glu367=)
NM_000108.5(DLD):c.118+10T>G
NM_000108.5(DLD):c.1182C>T (p.Tyr394=) rs757087726
NM_000108.5(DLD):c.119-4G>A rs376605135
NM_000108.5(DLD):c.119-5C>T
NM_000108.5(DLD):c.119-7A>G
NM_000108.5(DLD):c.1236+9G>A
NM_000108.5(DLD):c.1237-7G>A
NM_000108.5(DLD):c.1254T>A (p.Val418=)
NM_000108.5(DLD):c.1266A>G (p.Pro422=) rs766756785
NM_000108.5(DLD):c.1272T>C (p.Ala424=)
NM_000108.5(DLD):c.1296T>C (p.Asn432=)
NM_000108.5(DLD):c.1320G>A (p.Lys440=)
NM_000108.5(DLD):c.1359A>G (p.Ala453=)
NM_000108.5(DLD):c.1374+10G>A
NM_000108.5(DLD):c.1374+9T>A rs1584473925
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495
NM_000108.5(DLD):c.1428C>T (p.Ser476=)
NM_000108.5(DLD):c.1443T>G (p.Ala481=) rs775957704
NM_000108.5(DLD):c.1452T>C (p.Cys484=) rs760982359
NM_000108.5(DLD):c.1465-7C>G rs886061908
NM_000108.5(DLD):c.1465-9C>T
NM_000108.5(DLD):c.1467C>A (p.Thr489=)
NM_000108.5(DLD):c.1482T>C (p.Phe494=)
NM_000108.5(DLD):c.1500T>C (p.Ala500=) rs773097788
NM_000108.5(DLD):c.1503G>A (p.Ala501=) rs766286119
NM_000108.5(DLD):c.168T>C (p.Ala56=)
NM_000108.5(DLD):c.180T>G (p.Ala60=)
NM_000108.5(DLD):c.183C>G (p.Ala61=)
NM_000108.5(DLD):c.183C>T (p.Ala61=)
NM_000108.5(DLD):c.18T>C (p.Arg6=)
NM_000108.5(DLD):c.198+10G>C
NM_000108.5(DLD):c.199-10T>C
NM_000108.5(DLD):c.199-4G>T
NM_000108.5(DLD):c.199-7G>T rs1358100638
NM_000108.5(DLD):c.204C>G (p.Val68=) rs553951105
NM_000108.5(DLD):c.24C>T (p.Tyr8=)
NM_000108.5(DLD):c.267+9G>A rs188936529
NM_000108.5(DLD):c.268-7C>T rs1584463325
NM_000108.5(DLD):c.282C>T (p.Asn94=) rs144617361
NM_000108.5(DLD):c.285T>C (p.Ser95=) rs761564212
NM_000108.5(DLD):c.30C>T (p.Ser10=)
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782
NM_000108.5(DLD):c.337+7A>G
NM_000108.5(DLD):c.342C>T (p.Ser114=)
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.5(DLD):c.351C>T (p.Arg117=)
NM_000108.5(DLD):c.36C>T (p.Ala12=) rs780127925
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715
NM_000108.5(DLD):c.387T>A (p.Thr129=)
NM_000108.5(DLD):c.40-10C>G
NM_000108.5(DLD):c.417C>G (p.Ala139=)
NM_000108.5(DLD):c.439-4A>G
NM_000108.5(DLD):c.439-6G>C rs369208046
NM_000108.5(DLD):c.439-7_439-6inv
NM_000108.5(DLD):c.444T>G (p.Val148=)
NM_000108.5(DLD):c.474C>A (p.Gly158=)
NM_000108.5(DLD):c.48T>C (p.His16=)
NM_000108.5(DLD):c.495G>A (p.Thr165=)
NM_000108.5(DLD):c.507C>A (p.Gly169=)
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432
NM_000108.5(DLD):c.508G>A (p.Gly170Ser)
NM_000108.5(DLD):c.519T>G (p.Val173=) rs148559280
NM_000108.5(DLD):c.528A>T (p.Thr176=)
NM_000108.5(DLD):c.540T>C (p.Leu180=)
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.5(DLD):c.549G>A (p.Thr183=) rs150630885
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427
NM_000108.5(DLD):c.57A>T (p.Arg19=) rs754899464
NM_000108.5(DLD):c.583-3C>T rs186031819
NM_000108.5(DLD):c.597A>G (p.Thr199=)
NM_000108.5(DLD):c.597A>T (p.Thr199=) rs768248572
NM_000108.5(DLD):c.609T>C (p.Ser203=)
NM_000108.5(DLD):c.654T>C (p.Val218=) rs1584465590
NM_000108.5(DLD):c.669A>C (p.Val223=)
NM_000108.5(DLD):c.684+9T>A
NM_000108.5(DLD):c.685-4G>A
NM_000108.5(DLD):c.685-4G>T
NM_000108.5(DLD):c.685-8_685-5del
NM_000108.5(DLD):c.699A>G (p.Gln233=)
NM_000108.5(DLD):c.723A>G (p.Ala241=)
NM_000108.5(DLD):c.72A>G (p.Leu24=)
NM_000108.5(DLD):c.735A>G (p.Leu245=)
NM_000108.5(DLD):c.741T>C (p.His247=)
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046
NM_000108.5(DLD):c.807G>T (p.Gly269=)
NM_000108.5(DLD):c.826A>T (p.Thr276Ser) rs148873419
NM_000108.5(DLD):c.834T>C (p.Val278=)
NM_000108.5(DLD):c.876-6A>T rs199944006
NM_000108.5(DLD):c.888T>C (p.Ala296=)
NM_000108.5(DLD):c.93T>C (p.Pro31=)
NM_000108.5(DLD):c.94C>T (p.Leu32=)
NM_000108.5(DLD):c.951C>G (p.Pro317=) rs778207997
NM_000108.5(DLD):c.954T>C (p.Phe318=)
NM_000108.5(DLD):c.96G>C (p.Leu32=) rs765623212

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