ClinVar Miner

List of variants studied for congenital disorder of glycosylation type I by Myriad Genetics, Inc.

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_000303.3(PMM2):c.255+2T>C rs139716296 0.00007
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760 0.00005
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707 0.00004
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000303.3(PMM2):c.640-9T>G rs370160676 0.00003
NM_000303.3(PMM2):c.255+1G>A rs1060499598 0.00002
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569 0.00001
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700 0.00001
NM_000303.3(PMM2):c.395T>C (p.Ile132Thr) rs80338702 0.00001
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr) rs150577656 0.00001
NM_013339.4(ALG6):c.680+2T>G rs868768232 0.00001
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu) rs372079206 0.00001
NM_000303.3(PMM2):c.228C>A (p.Tyr76Ter)
NM_000303.3(PMM2):c.250A>T (p.Arg84Ter)
NM_000303.3(PMM2):c.295_296del (p.Leu99fs)
NM_000303.3(PMM2):c.296T>A (p.Leu99Ter)
NM_000303.3(PMM2):c.309T>A (p.Cys103Ter)
NM_000303.3(PMM2):c.325A>T (p.Lys109Ter)
NM_000303.3(PMM2):c.340A>T (p.Lys114Ter)
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.76A>T (p.Lys26Ter)
NM_013339.4(ALG6):c.1013T>A (p.Leu338Ter)
NM_013339.4(ALG6):c.1076T>A (p.Leu359Ter)
NM_013339.4(ALG6):c.232del (p.Tyr78fs)
NM_013339.4(ALG6):c.285_286insTATAAACTTT (p.Ala96fs)
NM_013339.4(ALG6):c.350T>A (p.Leu117Ter)
NM_013339.4(ALG6):c.654T>A (p.Cys218Ter)
NM_013339.4(ALG6):c.657del (p.Phe219fs)
NM_013339.4(ALG6):c.670A>T (p.Lys224Ter)
NM_013339.4(ALG6):c.820A>T (p.Lys274Ter)
NM_013339.4(ALG6):c.893T>A (p.Leu298Ter)
NM_013339.4(ALG6):c.947T>G (p.Leu316Ter)
NM_013339.4(ALG6):c.947_950del (p.Leu316fs)

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