ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (161):
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ClinVar version:
Total variants: 58
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HGVS dbSNP
NC_012920.1:m.3243A>G rs199474657
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.507+5G>C
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000108.5(DLD):c.857A>G (p.Asp286Gly)
NM_000151.4(G6PC1):c.551G>T (p.Gly184Val) rs104894569
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483
NM_000152.5(GAA):c.1194+5G>A
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.461G>C (p.Arg154Pro)
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441
NM_000158.4(GBE1):c.691+2T>C rs192044702
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243
NM_000181.4(GUSB):c.323C>T (p.Pro108Leu)
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000262.3(NAGA):c.759+1_759+8del
NM_000284.4(PDHA1):c.1014_1034dup (p.Glu345_Ile346insAspAspValGluValArgLys)
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=) rs398123300
NM_000284.4(PDHA1):c.57+2531T>C
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.4(PDHA1):c.65G>C (p.Arg22Thr) rs1057518756
NM_000284.4(PDHA1):c.998_1008+20dup
NM_000292.3(PHKA2):c.2848G>A (p.Asp950Asn)
NM_000292.3(PHKA2):c.749C>T (p.Ser250Leu)
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000308.4(CTSA):c.736T>C (p.Cys246Arg)
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs) rs748872992
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser) rs121908046
NM_001040716.2(PC):c.1877G>A (p.Arg626Gln)
NM_001040716.2(PC):c.3306dup (p.Lys1103fs)
NM_001164278.2(SLC37A4):c.1309C>T (p.Arg437Ter) rs121908979
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688
NM_001370658.1(BTD):c.249+1G>A
NM_001931.5(DLAT):c.1399A>C (p.Ile467Leu)
NM_001931.5(DLAT):c.976-1G>A rs367875541
NM_002294.3(LAMP2):c.64+16C>T
NM_002591.4(PCK1):c.961+1G>A
NM_002637.4(PHKA1):c.442A>G (p.Met148Val)
NM_002637.4(PHKA1):c.678_684del (p.Val227fs)
NM_002863.5(PYGL):c.2177+2T>C
NM_003477.3(PDHX):c.1204G>T (p.Asp402Tyr)
NM_003477.3(PDHX):c.1292T>C (p.Val431Ala)
NM_004130.3(GYG1):c.304G>C (p.Asp102His) rs143137713
NM_004130.4(GYG1):c.955G>C (p.Glu319Gln)
NM_005271.5(GLUD1):c.226C>T (p.Arg76Cys)
NM_006859.4(LIAS):c.393+7C>G
NM_006859.4(LIAS):c.643del (p.Asp215fs)
NM_022042.4(SLC26A1):c.955G>A (p.Val319Met)
NM_031229.4(RBCK1):c.582+1G>A
NM_053013.4(ENO3):c.115G>A (p.Ala39Thr)
NM_145262.4(GLYCTK):c.112G>A (p.Ala38Thr)
NM_145262.4(GLYCTK):c.1313C>T (p.Pro438Leu)
NM_213606.4(SLC16A12):c.305-9T>C

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