ClinVar Miner

List of variants studied for congenital disorder of glycosylation type I by Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000303.3(PMM2):c.127G>A (p.Val43Met) rs376754460
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_004870.4(MPDU1):c.310G>A (p.Gly104Ser) rs1555570093
NM_004870.4(MPDU1):c.377A>C (p.Gln126Pro) rs1555570110
NM_024079.5(ALG8):c.856T>G (p.Trp286Gly) rs794727931
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401
NM_052859.4(RFT1):c.902A>G (p.Tyr301Cys) rs913477149

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