ClinVar Miner

List of variants reported as likely benign for ALG11-congenital disorder of glycosylation

Included ClinVar conditions (1):
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Total variants: 23
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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_021645.6(UTP14C):c.-42G>A rs140978619 0.00414
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.1452A>G (p.Leu484=) rs188332164 0.00019
NM_001004127.3(ALG11):c.874T>C (p.Leu292=) rs533408732 0.00010
NM_001004127.3(ALG11):c.1269G>A (p.Lys423=) rs369694921 0.00004
NM_001004127.3(ALG11):c.44+19G>A rs748893269 0.00004
NM_001004127.3(ALG11):c.987G>A (p.Lys329=) rs921029114 0.00001
NM_001004127.3(ALG11):c.1191C>T (p.Asn397=) rs141089354
NM_001004127.3(ALG11):c.18G>A (p.Arg6=) rs1393492365
NM_001004127.3(ALG11):c.306C>T (p.Thr102=)
NM_001004127.3(ALG11):c.309C>T (p.Gly103=)
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.534C>T (p.Tyr178=)
NM_001004127.3(ALG11):c.612C>T (p.Thr204=)
NM_001004127.3(ALG11):c.678T>C (p.Asn226=) rs1593903157
NM_001004127.3(ALG11):c.6G>A (p.Ala2=)
NM_021645.6(UTP14C):c.-486-14G>T rs752238208
NM_021645.6(UTP14C):c.-486-7T>C rs2140846961

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