ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000152.5(GAA):c.224C>G (p.Pro75Arg) rs1555598675
NM_003041.4(SLC5A2):c.1007G>A (p.Arg336His)
NM_003041.4(SLC5A2):c.1261G>A (p.Glu421Lys)
NM_003041.4(SLC5A2):c.1275G>A (p.Val425=)
NM_003041.4(SLC5A2):c.1652T>C (p.Ile551Thr)
NM_003041.4(SLC5A2):c.227T>A (p.Ile76Asn) rs762905275
NM_003041.4(SLC5A2):c.371C>T (p.Thr124Met)
NM_003041.4(SLC5A2):c.451A>C (p.Ile151Leu)
NM_012203.2(GRHPR):c.872T>C (p.Leu291Pro) rs1588768370
NM_138413.4(HOGA1):c.872T>C (p.Ile291Thr) rs1554875257

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