ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Lifecell International Pvt. Ltd

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His) rs766835582 0.00004
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) rs137852330 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) rs121909742 0.00002
NM_000402.4(G6PD):c.298T>C (p.Tyr100His) rs137852349 0.00002
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys) rs563971993 0.00002
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192 0.00001
NM_001360016.2(G6PD):c.551C>T (p.Ser184Phe) rs782315572 0.00001
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) rs1057516674
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000202.8(IDS):c.1080_1081insGAATAA (p.Phe361delinsGluTer) rs2124006012
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000512.5(GALNS):c.29G>A (p.Trp10Ter) rs1967945316
NM_001136035.4(TRMT1):c.24_33del (p.Leu10fs) rs750785552
NM_001360016.2(G6PD):c.857A>G (p.Asp286Gly) rs2148329856
NM_001739.2(CA5A):c.618+1G>T
NM_003477.3(PDHX):c.791C>G (p.Ser264Ter)
NM_003619.4(PRSS12):c.1501A>T (p.Arg501Ter)
NM_005327.7(HADH):c.166_169del (p.Val56fs)
NM_152419.3(HGSNAT):c.1323C>A (p.Tyr441Ter) rs1804568176

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