ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp) rs121918403 0.00019
NM_005908.4(MANBA):c.1499G>A (p.Arg500His) rs147542645 0.00014
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268 0.00013
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln) rs371310428 0.00002
NM_018297.4(NGLY1):c.978_980del (p.Glu326_Ala327delinsAsp) rs761634625 0.00002
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln) rs180177203 0.00001
NM_000116.5(TAFAZZIN):c.532T>A (p.Phe178Ile)
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro) rs2143857207
NM_000199.5(SGSH):c.1455del (p.Val486fs)
NM_000202.8(IDS):c.817C>T (p.Arg273Trp)
NM_000284.4(PDHA1):c.1045G>A (p.Ala349Thr) rs886044701
NM_000284.4(PDHA1):c.511G>A (p.Val171Met)
NM_000284.4(PDHA1):c.518T>C (p.Leu173Pro)
NM_000292.3(PHKA2):c.3629G>A (p.Gly1210Glu) rs1601685358
NM_000458.4(HNF1B):c.437A>C (p.Asn146Thr)
NM_000458.4(HNF1B):c.479T>C (p.Met160Thr)
NM_001080510.5(METTL23):c.409del (p.Ala137fs)
NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala) rs1057516035
NM_005327.7(HADH):c.100G>C (p.Gly34Arg) rs779135938
NM_005327.7(HADH):c.434C>A (p.Ala145Asp)
NM_005908.4(MANBA):c.549+1G>A rs1334537145
NM_006516.4(SLC2A1):c.728A>T (p.Glu243Val) rs2124449030
NM_012203.2(GRHPR):c.170G>A (p.Cys57Tyr)
NM_012434.5(SLC17A5):c.1111G>A (p.Gly371Arg) rs1277966688
NM_014168.4(METTL5):c.406+1_406+2insATACAAATTC
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)
NM_016219.5(MAN1B1):c.917-2_921del
NM_018297.4(NGLY1):c.982C>T (p.Arg328Cys) rs762276611

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