ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000203.5(IDUA):c.876del (p.Asp292fs) rs1553917209
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr) rs1358047518
NM_003041.4(SLC5A2):c.1388T>C (p.Leu463Pro)
NM_006516.4(SLC2A1):c.293del (p.Met98fs)

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