ClinVar Miner

List of variants in gene DDOST reported as likely benign for DDOST-congenital disorder of glycosylation

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_005216.5(DDOST):c.1148C>T (p.Thr383Ile) rs145940009 0.00165
NM_005216.5(DDOST):c.711C>T (p.Arg237=) rs34189097 0.00099
NM_005216.5(DDOST):c.148C>T (p.Leu50=) rs143421115 0.00066
NM_005216.5(DDOST):c.384C>T (p.Cys128=) rs148134377 0.00034
NM_005216.5(DDOST):c.352+9G>A rs367895981 0.00025
NM_005216.5(DDOST):c.894G>C (p.Arg298=) rs145327708 0.00021
NM_005216.4(DDOST):c.16T>G (p.Cys6Gly) rs149951380 0.00017
NM_005216.5(DDOST):c.1221G>A (p.Ser407=) rs142441124 0.00014
NM_005216.5(DDOST):c.645+9T>C rs374229790 0.00009
NM_005216.5(DDOST):c.1314C>T (p.Ser438=) rs764406890 0.00006
NM_005216.5(DDOST):c.552-13C>T rs373356614 0.00006
NM_005216.5(DDOST):c.207C>T (p.Leu69=) rs753702642 0.00005
NM_005216.5(DDOST):c.1206G>A (p.Glu402=) rs1262965370 0.00004
NM_005216.5(DDOST):c.1236C>T (p.Tyr412=) rs376894317 0.00004
NM_005216.5(DDOST):c.468C>T (p.Ile156=) rs376070047 0.00004
NM_005216.5(DDOST):c.399C>T (p.Asp133=) rs199859745 0.00003
NM_005216.5(DDOST):c.777G>A (p.Ala259=) rs757033527 0.00003
NM_005216.5(DDOST):c.1305G>A (p.Lys435=) rs370226725 0.00002
NM_005216.5(DDOST):c.1098C>T (p.Asp366=) rs777455786 0.00001
NM_005216.5(DDOST):c.1281C>T (p.Ile427=) rs923235061 0.00001
NM_005216.5(DDOST):c.168G>A (p.Glu56=) rs747449468 0.00001
NM_005216.5(DDOST):c.646-14C>T rs543407020 0.00001
NM_005216.5(DDOST):c.780G>A (p.Ala260=) rs961389384 0.00001
NM_005216.5(DDOST):c.1063+19C>T
NM_005216.5(DDOST):c.1063+20G>A
NM_005216.5(DDOST):c.1064-5C>T
NM_005216.5(DDOST):c.111C>T (p.Leu37=) rs2154534463
NM_005216.5(DDOST):c.1158C>T (p.Tyr386=)
NM_005216.5(DDOST):c.1171-7_1171-5del
NM_005216.5(DDOST):c.1171-9C>G
NM_005216.5(DDOST):c.1218C>T (p.Pro406=)
NM_005216.5(DDOST):c.1263G>C (p.Gly421=)
NM_005216.5(DDOST):c.132G>T (p.Ser44=)
NM_005216.5(DDOST):c.154+14C>T
NM_005216.5(DDOST):c.154+7G>C
NM_005216.5(DDOST):c.225C>T (p.Phe75=) rs1408934262
NM_005216.5(DDOST):c.24G>A (p.Arg8=)
NM_005216.5(DDOST):c.312C>T (p.Asp104=)
NM_005216.5(DDOST):c.457-9T>G
NM_005216.5(DDOST):c.462G>A (p.Thr154=)
NM_005216.5(DDOST):c.534C>T (p.Ile178=)
NM_005216.5(DDOST):c.540T>C (p.Phe180=) rs2154534275
NM_005216.5(DDOST):c.551+11G>A rs369573026
NM_005216.5(DDOST):c.551+17G>A
NM_005216.5(DDOST):c.552-12G>A
NM_005216.5(DDOST):c.618C>A (p.Ser206=)
NM_005216.5(DDOST):c.63C>T (p.Gly21=)
NM_005216.5(DDOST):c.645+19T>C
NM_005216.5(DDOST):c.732C>A (p.Leu244=) rs149114970
NM_005216.5(DDOST):c.753C>T (p.Phe251=)
NM_005216.5(DDOST):c.794+10A>G
NM_005216.5(DDOST):c.794+10A>T
NM_005216.5(DDOST):c.942+13dup
NM_005216.5(DDOST):c.942+15G>C

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