ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly) rs2089378583
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del) rs2089505317
NM_000202.8(IDS):c.136G>T (p.Asp46Tyr) rs2089504816
NM_000202.8(IDS):c.1406C>T (p.Pro469Leu) rs2123994360
NM_000202.8(IDS):c.1454T>A (p.Ile485Lys) rs782430567
NM_000202.8(IDS):c.1568A>G (p.Tyr523Cys) rs2089303696
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000202.8(IDS):c.212G>T (p.Ser71Ile) rs113993954
NM_000202.8(IDS):c.275T>C (p.Leu92Pro) rs2089497300
NM_000202.8(IDS):c.455G>A (p.Ser152Asn) rs193302914
NM_000202.8(IDS):c.692C>G (p.Pro231Arg) rs2089450305
NM_000202.8(IDS):c.908C>T (p.Ser303Phe) rs2124020665
NM_000202.8(IDS):c.923A>G (p.Asp308Gly) rs2124020552
NM_000202.8(IDS):c.982_996del (p.Ile328_Thr332del) rs2124020031
NM_000340.2(SLC2A2):c.1246G>A (p.Gly416Ser) rs1553785033

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