ClinVar Miner

List of variants reported as likely benign for ALG8-congenital disorder of glycosylation by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_024079.5(ALG8):c.96-6G>C rs199911532 0.00160
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu) rs146603801 0.00103
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys) rs61995921 0.00094
NM_024079.5(ALG8):c.682A>G (p.Ile228Val) rs150736564 0.00061
NM_024079.5(ALG8):c.869A>G (p.Asn290Ser) rs61995923 0.00050
NM_024079.5(ALG8):c.1506C>T (p.Gly502=) rs148820351 0.00031
NM_024079.5(ALG8):c.175-13A>G rs186117363 0.00021
NM_024079.5(ALG8):c.459C>T (p.Phe153=) rs144501219 0.00013
NM_024079.5(ALG8):c.898+8A>G rs190448293 0.00013
NM_024079.5(ALG8):c.1516G>A (p.Ala506Thr) rs149692072 0.00011
NM_024079.5(ALG8):c.1178+7A>G rs766278533 0.00009
NM_024079.5(ALG8):c.899-15A>G rs760264923 0.00006
NM_024079.5(ALG8):c.984C>A (p.Val328=) rs757467776 0.00006
NM_024079.5(ALG8):c.546+7A>T rs771817128 0.00004
NM_024079.5(ALG8):c.369-15A>G rs374645837 0.00003
NM_024079.5(ALG8):c.1276+9C>T rs747836496 0.00002
NM_024079.5(ALG8):c.95+16G>A rs376357429 0.00002
NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys) rs777557874 0.00001
NM_024079.5(ALG8):c.1491G>A (p.Val497=) rs766871884 0.00001
NM_024079.5(ALG8):c.36T>C (p.Asn12=) rs1179361051 0.00001
NM_024079.5(ALG8):c.546+12T>G rs1169043575 0.00001
NM_024079.5(ALG8):c.1020C>T (p.Cys340=)
NM_024079.5(ALG8):c.1038+16A>G
NM_024079.5(ALG8):c.1039-19C>G
NM_024079.5(ALG8):c.1116C>T (p.Ser372=)
NM_024079.5(ALG8):c.1227G>C (p.Leu409=) rs1590803789
NM_024079.5(ALG8):c.1277-10_1277-8del rs764468497
NM_024079.5(ALG8):c.1356A>G (p.Glu452=)
NM_024079.5(ALG8):c.1386C>T (p.Phe462=)
NM_024079.5(ALG8):c.1443C>G (p.Thr481=) rs746756065
NM_024079.5(ALG8):c.1443C>T (p.Thr481=)
NM_024079.5(ALG8):c.1467C>T (p.Phe489=)
NM_024079.5(ALG8):c.1485C>G (p.Thr495=)
NM_024079.5(ALG8):c.1554T>C (p.Ser518=)
NM_024079.5(ALG8):c.192G>A (p.Thr64=)
NM_024079.5(ALG8):c.345A>C (p.Val115=)
NM_024079.5(ALG8):c.354G>A (p.Val118=)
NM_024079.5(ALG8):c.368+13C>A
NM_024079.5(ALG8):c.368+16G>T
NM_024079.5(ALG8):c.435G>A (p.Leu145=)
NM_024079.5(ALG8):c.441A>G (p.Val147=)
NM_024079.5(ALG8):c.441A>T (p.Val147=) rs112109685
NM_024079.5(ALG8):c.504T>C (p.Phe168=)
NM_024079.5(ALG8):c.54G>T (p.Ala18=)
NM_024079.5(ALG8):c.643C>A (p.Arg215=)
NM_024079.5(ALG8):c.739T>C (p.Leu247=)
NM_024079.5(ALG8):c.757T>C (p.Leu253=)
NM_024079.5(ALG8):c.898+10C>T
NM_024079.5(ALG8):c.96-15A>G
NM_024079.5(ALG8):c.96-6G>A rs199911532
NM_024079.5(ALG8):c.993A>T (p.Ser331=) rs758856513

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