ClinVar Miner

List of variants reported as likely pathogenic 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_000292.3(PHKA2):c.415T>C (p.Ser139Pro) rs1556014969
NM_000352.6(ABCC8):c.4146T>G (p.Ser1382Arg) rs886039877
NM_000642.3(AGL):c.1282A>G (p.Arg428Gly) rs886039883
NM_000642.3(AGL):c.772T>C (p.Ser258Pro) rs886039873
NM_001164277.1(SLC37A4):c.838G>C (p.Ala280Pro) rs1555190969
NM_003041.4(SLC5A2):c.1152_1163del (p.Val385_Ala388del) rs770588592
NM_003041.4(SLC5A2):c.1345G>T (p.Gly449Cys) rs773289713
NM_003041.4(SLC5A2):c.1451G>A (p.Gly484Asp) rs1309307492
NM_003041.4(SLC5A2):c.885+5G>A rs200228142
NM_138413.4(HOGA1):c.331G>A (p.Gly111Arg) rs200529020

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