ClinVar Miner

List of variants in gene ALG11 studied for ALG11-CDG

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP
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.257T>C (p.Leu86Ser) rs267606652
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.623_642del (p.Ser208fs) rs387907180
NM_001004127.3(ALG11):c.823A>G (p.Thr275Ala) rs1401571024
NM_001004127.3(ALG11):c.836A>C (p.Tyr279Ser) rs387907181
NM_001004127.3(ALG11):c.899G>A (p.Gly300Glu)
NM_001004127.3(ALG11):c.933G>A (p.Pro311=) rs61958802
NM_001004127.3(ALG11):c.953A>C (p.Gln318Pro) rs387907184

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