ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Medical Biochemical Genetics, National Human Genome institute, NIH,National Institutes of Health

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_018297.4(NGLY1):c.1169G>C (p.Arg390Pro) rs1135401728
NM_018297.4(NGLY1):c.1604G>A (p.Trp535Ter) rs767388144
NM_018297.4(NGLY1):c.1910del (p.Ser636_Leu637insTer) rs1135401730
NM_018297.4(NGLY1):c.347C>G (p.Ser116Ter) rs907852687
NM_018297.4(NGLY1):c.622C>T (p.Gln208Ter) rs200561967
NM_018297.4(NGLY1):c.730T>C (p.Trp244Arg) rs1135401729
NM_018297.4(NGLY1):c.881+5G>T rs1135401731
NM_018297.4(NGLY1):c.930C>T (p.Gly310=) rs745814294
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys) rs201791209

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