ClinVar Miner

List of variants studied for ALG11-congenital disorder of glycosylation by Invitae

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_001004127.3(ALG11):c.44+324T>C rs77505745 0.04331
NM_001004127.3(ALG11):c.44+154G>A rs111871296 0.04085
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.1032T>G (p.Gly344=) rs143967675 0.00348
NM_001004127.3(ALG11):c.44+20G>T rs200503510 0.00153
NM_021645.6(UTP14C):c.-486-6T>C rs200751186 0.00078
NM_001004127.3(ALG11):c.1160A>C (p.Glu387Ala) rs115524395 0.00044
NM_001004127.3(ALG11):c.1107T>C (p.Tyr369=) rs146432805 0.00031
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.1452A>G (p.Leu484=) rs188332164 0.00019
NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys) rs150101415 0.00019
NM_001004127.3(ALG11):c.10G>A (p.Gly4Ser) rs201560109 0.00012
NM_001004127.3(ALG11):c.874T>C (p.Leu292=) rs533408732 0.00010
NM_001004127.3(ALG11):c.1037G>A (p.Arg346His) rs144883776 0.00006
NM_001004127.3(ALG11):c.1269G>A (p.Lys423=) rs369694921 0.00004
NM_001004127.3(ALG11):c.21C>G (p.Ser7Arg) rs746897177 0.00004
NM_001004127.3(ALG11):c.325G>A (p.Gly109Ser) rs765666509 0.00004
NM_001004127.3(ALG11):c.44+19G>A rs748893269 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.987G>A (p.Lys329=) rs921029114 0.00001
NC_000013.10:g.(?_52538988)_(52602746_?)dup
NC_000013.10:g.(?_52585403)_(52602726_?)del
NM_000053.4(ATP7B):c.-123_-119dupCGCCG rs148013251
NM_001004127.3(ALG11):c.1191C>T (p.Asn397=) rs141089354
NM_001004127.3(ALG11):c.1220G>T (p.Cys407Phe)
NM_001004127.3(ALG11):c.1273G>A (p.Asp425Asn)
NM_001004127.3(ALG11):c.1349C>T (p.Ala450Val) rs757069433
NM_001004127.3(ALG11):c.1462G>T (p.Glu488Ter)
NM_001004127.3(ALG11):c.1476_1479del (p.Lys492fs)
NM_001004127.3(ALG11):c.187A>T (p.Met63Leu) rs2140832522
NM_001004127.3(ALG11):c.18G>A (p.Arg6=) rs1393492365
NM_001004127.3(ALG11):c.238A>G (p.Arg80Gly)
NM_001004127.3(ALG11):c.27C>A (p.Cys9Ter)
NM_001004127.3(ALG11):c.306C>T (p.Thr102=)
NM_001004127.3(ALG11):c.309C>T (p.Gly103=)
NM_001004127.3(ALG11):c.31T>G (p.Cys11Gly) rs1444016944
NM_001004127.3(ALG11):c.364A>C (p.Ile122Leu)
NM_001004127.3(ALG11):c.402G>A (p.Arg134=) rs2140838895
NM_001004127.3(ALG11):c.44+14C>G
NM_001004127.3(ALG11):c.445C>T (p.Leu149=)
NM_001004127.3(ALG11):c.494T>C (p.Met165Thr)
NM_001004127.3(ALG11):c.534C>T (p.Tyr178=)
NM_001004127.3(ALG11):c.5C>T (p.Ala2Val) rs1363416785
NM_001004127.3(ALG11):c.612C>T (p.Thr204=)
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.6G>A (p.Ala2=)
NM_001004127.3(ALG11):c.778T>C (p.Trp260Arg)
NM_001004127.3(ALG11):c.823A>G (p.Thr275Ala) rs1401571024
NM_001004127.3(ALG11):c.899G>A (p.Gly300Glu) rs1593903383
NM_001004127.3(ALG11):c.937A>G (p.Lys313Glu) rs2140840089
NM_021645.6(UTP14C):c.-486-14G>T rs752238208
NM_021645.6(UTP14C):c.-486-7T>C rs2140846961

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