ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (304):
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ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_053013.4(ENO3):c.115G>A (p.Ala39Thr) rs141103742 0.00021
NM_145262.4(GLYCTK):c.1313C>T (p.Pro438Leu) rs758823918 0.00009
NM_000292.3(PHKA2):c.2848G>A (p.Asp950Asn) rs747153540 0.00006
NM_000181.4(GUSB):c.323C>T (p.Pro108Leu) rs1268678201 0.00003
NM_003597.5(KLF11):c.23G>A (p.Gly8Asp) rs1553312826 0.00003
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 0.00002
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) rs141322087 0.00002
NM_001807.6(CEL):c.341-2A>G rs755075929 0.00002
NM_002637.4(PHKA1):c.442A>G (p.Met148Val) rs781837256 0.00002
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052 0.00001
NM_001931.5(DLAT):c.1399A>C (p.Ile467Leu) rs1221769620 0.00001
NM_017721.5(CC2D1A):c.2159G>A (p.Arg720His) rs1194702277 0.00001
NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln) rs149611886 0.00001
NM_213606.4(SLC16A12):c.305-9T>C rs749441853 0.00001
NM_000027.4(AGA):c.507+5G>C rs1472514068
NM_000108.5(DLD):c.857A>G (p.Asp286Gly) rs192349677
NM_000284.4(PDHA1):c.1014_1034dup (p.Lys344_Glu345insAspAspValGluValArgLys) rs2063244761
NM_000284.4(PDHA1):c.65G>C (p.Arg22Thr) rs1057518756
NM_000284.4(PDHA1):c.998_1008+20dup rs2063233544
NM_000292.3(PHKA2):c.749C>T (p.Ser250Leu) rs2048489995
NM_000308.4(CTSA):c.736T>C (p.Cys246Arg) rs1177744429
NM_000352.6(ABCC8):c.3399+6G>A rs1954472209
NM_001040716.2(PC):c.1877G>A (p.Arg626Gln) rs780759271
NM_002294.3(LAMP2):c.64+16C>T rs780307352
NM_003477.3(PDHX):c.1204G>T (p.Asp402Tyr) rs756801221
NM_004130.4(GYG1):c.955G>C (p.Glu319Gln) rs1714679440
NM_005271.5(GLUD1):c.226C>T (p.Arg76Cys) rs1841666156
NM_005670.4(EPM2A):c.499G>C (p.Gly167Arg) rs1776588836
NM_006859.4(LIAS):c.393+7C>G rs372423537
NM_017721.5(CC2D1A):c.1072C>T (p.Arg358Trp) rs774357851
NM_145262.4(GLYCTK):c.112G>A (p.Ala38Thr) rs1700426072
NM_175914.5(HNF4A):c.944TGC[4] (p.Leu319del) rs776489992

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