ClinVar Miner

List of variants studied for ALG11-CDG by Invitae

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP
NC_000013.10:g.(?_52538988)_(52602746_?)dup
NM_001004127.2(ALG11):c.-674A>G rs28362532
NM_001004127.3(ALG11):c.1032T>G (p.Gly344=) rs143967675
NM_001004127.3(ALG11):c.1107T>C (p.Tyr369=) rs146432805
NM_001004127.3(ALG11):c.173A>T (p.Asn58Ile) rs150818619
NM_001004127.3(ALG11):c.256T>G (p.Leu86Val) rs182350911
NM_001004127.3(ALG11):c.323A>G (p.Asn108Ser) rs17480245
NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys) rs150101415
NM_001004127.3(ALG11):c.44+324T>C rs77505745
NM_001004127.3(ALG11):c.5C>T (p.Ala2Val)
NM_001004127.3(ALG11):c.823A>G (p.Thr275Ala) rs1401571024
NM_001004127.3(ALG11):c.899G>A (p.Gly300Glu)
NM_001004127.3(ALG11):c.933G>A (p.Pro311=) rs61958802

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