ClinVar Miner

List of variants in gene ALG11 studied for congenital disorder of glycosylation type I

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001004127.3(ALG11):c.44+324T>C rs77505745 0.04331
NM_001004127.3(ALG11):c.933G>A (p.Pro311=) rs61958802 0.03255
NM_001004127.3(ALG11):c.323A>G (p.Asn108Ser) rs17480245 0.01560
NM_001004127.3(ALG11):c.173A>T (p.Asn58Ile) rs150818619 0.00365
NM_001004127.3(ALG11):c.802C>A (p.Leu268Ile) rs148434423 0.00058
NM_001004127.3(ALG11):c.256T>G (p.Leu86Val) rs182350911 0.00026
NM_001004127.3(ALG11):c.535G>A (p.Ala179Thr) rs202195109 0.00021
NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys) rs150101415 0.00019
NM_001004127.3(ALG11):c.874T>C (p.Leu292=) rs533408732 0.00010
NM_001004127.3(ALG11):c.325G>A (p.Gly109Ser) rs765666509 0.00004
NM_001004127.3(ALG11):c.124A>G (p.Ile42Val) rs201067230 0.00003
NM_001004127.3(ALG11):c.522T>G (p.Asp174Glu) rs748117240 0.00002
NM_001004127.3(ALG11):c.497A>G (p.Gln166Arg) rs756365610 0.00001
NM_001004127.3(ALG11):c.946C>G (p.Pro316Ala) rs765431074 0.00001
NM_001004127.3(ALG11):c.137T>C (p.Leu46Pro) rs794727256
NM_001004127.3(ALG11):c.168C>G (p.Ser56Arg) rs1954160784
NM_001004127.3(ALG11):c.187A>T (p.Met63Leu) rs2140832522
NM_001004127.3(ALG11):c.190G>A (p.Val64Met) rs1419202736
NM_001004127.3(ALG11):c.238A>G (p.Arg80Gly)
NM_001004127.3(ALG11):c.251G>A (p.Cys84Tyr)
NM_001004127.3(ALG11):c.257T>C (p.Leu86Ser) rs267606652
NM_001004127.3(ALG11):c.281C>G (p.Pro94Arg) rs771281050
NM_001004127.3(ALG11):c.306C>T (p.Thr102=)
NM_001004127.3(ALG11):c.309C>T (p.Gly103=)
NM_001004127.3(ALG11):c.364A>C (p.Ile122Leu)
NM_001004127.3(ALG11):c.402G>A (p.Arg134=) rs2140838895
NM_001004127.3(ALG11):c.445C>T (p.Leu149=)
NM_001004127.3(ALG11):c.494T>C (p.Met165Thr)
NM_001004127.3(ALG11):c.526A>G (p.Met176Val) rs1268308514
NM_001004127.3(ALG11):c.534C>T (p.Tyr178=)
NM_001004127.3(ALG11):c.612C>T (p.Thr204=)
NM_001004127.3(ALG11):c.623_642del (p.Ser208fs) rs387907180
NM_001004127.3(ALG11):c.636T>G (p.Asn212Lys) rs1954216629
NM_001004127.3(ALG11):c.662C>G (p.Ala221Gly) rs142637770
NM_001004127.3(ALG11):c.678T>C (p.Asn226=) rs1593903157
NM_001004127.3(ALG11):c.75C>T (p.Leu25=) rs886050312
NM_001004127.3(ALG11):c.770A>G (p.Asn257Ser)
NM_001004127.3(ALG11):c.778T>C (p.Trp260Arg)
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) rs1593903383
NM_001004127.3(ALG11):c.900A>T (p.Gly300=) rs376118160
NM_001004127.3(ALG11):c.932C>T (p.Pro311Leu)
NM_001004127.3(ALG11):c.935A>G (p.Glu312Gly) rs1064795802
NM_001004127.3(ALG11):c.937A>G (p.Lys313Glu) rs2140840089
NM_001004127.3(ALG11):c.953A>C (p.Gln318Pro) rs387907184

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