ClinVar Miner

List of variants in gene ALG8 studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_001007027.2(ALG8):c.*272A>G rs1263505
NM_024079.5(ALG8):c.1038+1G>T rs202112771
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val) rs200068321
NM_024079.5(ALG8):c.1293C>G (p.Ile431Met)
NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr) rs17825668
NM_024079.5(ALG8):c.139A>C (p.Thr47Pro) rs121908293
NM_024079.5(ALG8):c.1507A>G (p.Ile503Val) rs17856033
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys) rs61995921
NM_024079.5(ALG8):c.396dup (p.Val133fs) rs753631154
NM_024079.5(ALG8):c.413del (p.Thr138fs) rs387906277
NM_024079.5(ALG8):c.478+1G>A rs139832787
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter) rs762811727
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278
NM_024079.5(ALG8):c.673+4A>G rs1470636347
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925
NM_024079.5(ALG8):c.824G>A (p.Gly275Asp) rs121908294
NM_024079.5(ALG8):c.856T>G (p.Trp286Gly) rs794727931
NM_024079.5(ALG8):c.896T>C (p.Ile299Thr) rs61995922
NM_024079.5(ALG8):c.96-2A>G rs1555073109
NM_024079.5(ALG8):c.96-6G>C rs199911532

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