ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Reproductive Health Research and Development,BGI Genomics

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp) rs200679026
NM_001360016.2(G6PD):c.486-60C>G rs2515904
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693
NM_002299.4(LCT):c.4170T>A (p.Tyr1390Ter) rs121908936
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser) rs61742739
NM_007180.3(TREH):c.90-9_106del rs527655595
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360

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