ClinVar Miner

List of variants studied 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: 28
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HGVS dbSNP
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546
NM_000035.4(ALDOB):c.865del (p.Leu289fs) rs864309533
NM_000152.5(GAA):c.1636+460_2672del
NM_000152.5(GAA):c.224C>G (p.Pro75Arg) rs1555598675
NM_000152.5(GAA):c.2704_2716dup (p.Val906fs) rs1057516189
NM_000292.3(PHKA2):c.415T>C (p.Ser139Pro) rs1556014969
NM_000340.2(SLC2A2):c.1358_1359del (p.Cys453fs) rs1553784980
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.378T>A (p.Cys126Ter) rs1553183359
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.1007G>A (p.Arg336His)
NM_003041.4(SLC5A2):c.1152_1163del (p.Val385_Ala388del) rs770588592
NM_003041.4(SLC5A2):c.1261G>A (p.Glu421Lys)
NM_003041.4(SLC5A2):c.1275G>A (p.Val425=)
NM_003041.4(SLC5A2):c.1291del (p.Val431fs) rs1555496083
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.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_003041.4(SLC5A2):c.885+5G>A rs200228142
NM_012203.2(GRHPR):c.872T>C (p.Leu291Pro) rs1588768370
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer) rs1419840309
NM_138413.4(HOGA1):c.331G>A (p.Gly111Arg) rs200529020
NM_138413.4(HOGA1):c.872T>C (p.Ile291Thr) rs1554875257

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