ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (305):
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ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391 0.00476
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054 0.00256
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591 0.00188
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn) rs144486825 0.00176
NM_000293.3(PHKB):c.574A>G (p.Ile192Val) rs117218785 0.00165
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011 0.00081
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_002637.4(PHKA1):c.2063G>A (p.Arg688Gln) rs201234013 0.00010
NM_024298.5(MBOAT7):c.1151G>A (p.Arg384Gln) rs545959971 0.00010
NM_145262.4(GLYCTK):c.457C>T (p.Arg153Trp) rs199906865 0.00009
NM_000292.3(PHKA2):c.1618G>A (p.Val540Met) rs368594655 0.00005
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln) rs373240866 0.00004
NM_001040716.2(PC):c.1607C>T (p.Pro536Leu) rs751657066 0.00004
NM_001358263.1(HK1):c.4G>A (p.Gly2Arg) rs766565453 0.00004
NM_000147.5(FUCA1):c.923G>A (p.Arg308His) rs372537257 0.00003
NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met) rs149331388 0.00003
NM_000365.6(TPI1):c.617G>A (p.Arg206His) rs782417309 0.00003
NM_003619.4(PRSS12):c.1879C>T (p.Arg627Trp) rs754920304 0.00003
NM_005271.5(GLUD1):c.1100A>G (p.Tyr367Cys) rs766896575 0.00003
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp) rs759260599 0.00002
NM_005915.6(MCM6):c.1654A>G (p.Ile552Val) rs776037433 0.00002
NM_000027.4(AGA):c.115G>A (p.Ala39Thr) rs763326444 0.00001
NM_000293.3(PHKB):c.203C>T (p.Thr68Ile) rs1555472064 0.00001
NM_001040716.2(PC):c.1832C>T (p.Thr611Met) rs757071897 0.00001
NM_001160372.4(TRAPPC9):c.1948G>A (p.Val650Ile) rs770244296 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_001807.6(CEL):c.217+34C>T rs778382071 0.00001
NM_002637.4(PHKA1):c.835A>G (p.Thr279Ala) rs1185410324 0.00001
NM_003384.3(VRK1):c.398G>A (p.Arg133His) rs758978677 0.00001
NM_005609.4(PYGM):c.1175T>C (p.Leu392Pro) rs759336535 0.00001
NM_005915.6(MCM6):c.1402C>T (p.Arg468Trp) rs138808270 0.00001
NM_006721.4(ADK):c.71A>T (p.Asn24Ile) rs1271395440 0.00001
NM_000181.4(GUSB):c.980G>T (p.Arg327Leu) rs1583924426
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) rs764815033
NM_000292.3(PHKA2):c.3064T>A (p.Ser1022Thr) rs773766679
NM_000292.3(PHKA2):c.3590G>T (p.Cys1197Phe) rs1569286164
NM_000343.4(SLC5A1):c.9_11dup (p.Ser4dup) rs775681808
NM_000507.4(FBP1):c.966del (p.Asp323fs) rs747269745
NM_000642.3(AGL):c.4037C>T (p.Ser1346Leu) rs1553192908
NM_000925.4(PDHB):c.962C>T (p.Pro321Leu) rs1576955015
NM_003041.4(SLC5A2):c.416G>A (p.Arg139His) rs1378076282
NM_003041.4(SLC5A2):c.655+6G>C rs779984246
NM_004130.4(GYG1):c.866G>T (p.Gly289Val) rs1553733613
NM_005908.4(MANBA):c.590C>G (p.Pro197Arg) rs1553951373
NM_014226.3(MOK):c.630_631dup (p.Ile211fs) rs769431982
NM_017721.5(CC2D1A):c.325G>A (p.Glu109Lys) rs1568405628
NM_020066.5(FMN2):c.1378G>A (p.Ala460Thr) rs1463766241
NM_024989.4(PGAP1):c.339G>C (p.Glu113Asp) rs1457240197
NM_145262.4(GLYCTK):c.60_62del (p.Trp21del) rs1553621315
NM_152419.3(HGSNAT):c.235-9T>G rs913764481
NM_181503.3(EXOSC8):c.781G>T (p.Glu261Ter) rs1221939030

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