ClinVar Miner

List of variants in gene ALG2 studied for ALG2-CDG

Included ClinVar conditions (2):
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Total variants: 49
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HGVS dbSNP
NM_033087.4(ALG2):c.1030G>C (p.Val344Leu)
NM_033087.4(ALG2):c.1040del (p.Gly347fs) rs387906281
NM_033087.4(ALG2):c.1055_1056delinsTGA (p.Ser352fs) rs1554707637
NM_033087.4(ALG2):c.10G>A (p.Glu4Lys) rs1329170357
NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys) rs56393253
NM_033087.4(ALG2):c.1174G>A (p.Ala392Thr) rs138258236
NM_033087.4(ALG2):c.1177A>G (p.Arg393Gly)
NM_033087.4(ALG2):c.1200T>C (p.Pro400=) rs764916897
NM_033087.4(ALG2):c.129C>G (p.Arg43=) rs35055733
NM_033087.4(ALG2):c.159C>T (p.His53=) rs527683080
NM_033087.4(ALG2):c.167C>T (p.Pro56Leu) rs201959100
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala) rs180849348
NM_033087.4(ALG2):c.182C>T (p.Ala61Val)
NM_033087.4(ALG2):c.1A>G (p.Met1Val) rs750172644
NM_033087.4(ALG2):c.212C>T (p.Ala71Val)
NM_033087.4(ALG2):c.216G>T (p.Gly72=) rs531748488
NM_033087.4(ALG2):c.219C>G (p.Asp73Glu) rs755705607
NM_033087.4(ALG2):c.232G>C (p.Gly78Arg)
NM_033087.4(ALG2):c.236T>C (p.Leu79Pro) rs1564222174
NM_033087.4(ALG2):c.251_253GCG[3] (p.Gly85dup)
NM_033087.4(ALG2):c.257_259CCG[3] (p.Ala87dup)
NM_033087.4(ALG2):c.268G>T (p.Ala90Ser)
NM_033087.4(ALG2):c.272A>C (p.Tyr91Ser)
NM_033087.4(ALG2):c.288C>T (p.Phe96=) rs542863968
NM_033087.4(ALG2):c.304C>T (p.Leu102=) rs749236548
NM_033087.4(ALG2):c.30C>G (p.Asp10Glu) rs7023652
NM_033087.4(ALG2):c.314C>G (p.Ala105Gly)
NM_033087.4(ALG2):c.319G>A (p.Glu107Lys)
NM_033087.4(ALG2):c.339G>A (p.Val113=) rs1554708016
NM_033087.4(ALG2):c.346C>G (p.Gln116Glu)
NM_033087.4(ALG2):c.348+6G>A rs368075764
NM_033087.4(ALG2):c.368T>C (p.Val123Ala)
NM_033087.4(ALG2):c.386G>A (p.Arg129Gln)
NM_033087.4(ALG2):c.393G>T (p.Lys131Asn) rs730880304
NM_033087.4(ALG2):c.399C>G (p.Ile133Met) rs371772900
NM_033087.4(ALG2):c.443A>G (p.Asp148Gly) rs369670496
NM_033087.4(ALG2):c.446C>A (p.Ser149Tyr)
NM_033087.4(ALG2):c.449T>C (p.Phe150Ser)
NM_033087.4(ALG2):c.44C>A (p.Pro15Gln) rs757920586
NM_033087.4(ALG2):c.472C>A (p.Pro158Thr) rs140382423
NM_033087.4(ALG2):c.473C>T (p.Pro158Leu)
NM_033087.4(ALG2):c.475A>G (p.Ile159Val) rs146770430
NM_033087.4(ALG2):c.678C>G (p.Phe226Leu)
NM_033087.4(ALG2):c.729A>T (p.Ala243=) rs748947069
NM_033087.4(ALG2):c.760T>C (p.Leu254=) rs62562374
NM_033087.4(ALG2):c.784G>T (p.Val262Phe)
NM_033087.4(ALG2):c.84C>G (p.Gly28=) rs61744789
NM_033087.4(ALG2):c.92G>C (p.Arg31Pro) rs1279623882
NM_033087.4(ALG2):c.97G>A (p.Val33Met)

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