ClinVar Miner

List of variants studied for DK1-congenital disorder of glycosylation by Illumina Laboratory Services, Illumina

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_014908.4(DOLK):c.-49A>G rs116439010 0.01730
NM_014908.4(DOLK):c.186G>A (p.Arg62=) rs148171062 0.00277
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys) rs145310298 0.00238
NM_014908.4(DOLK):c.771C>T (p.Ile257=) rs147416890 0.00205
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys) rs138453255 0.00111
NM_014908.4(DOLK):c.700A>G (p.Met234Val) rs139787271 0.00104
NM_014908.4(DOLK):c.873C>T (p.Leu291=) rs148646968 0.00073
NM_014908.4(DOLK):c.1314C>T (p.Leu438=) rs148118523 0.00072
NM_014908.4(DOLK):c.525T>G (p.Val175=) rs200278288 0.00045
NM_014908.4(DOLK):c.1450A>G (p.Ile484Val) rs147630977 0.00044
NM_014908.4(DOLK):c.1481A>G (p.Asp494Gly) rs145292760 0.00039
NM_014908.4(DOLK):c.579G>A (p.Glu193=) rs28365522 0.00031
NM_015354.3(NUP188):c.8C>T (p.Ala3Val) rs746695959 0.00028
NM_014908.3(DOLK):c.-386C>A rs576979416 0.00024
NM_014908.4(DOLK):c.1437T>C (p.Ser479=) rs574290806 0.00019
NM_014908.4(DOLK):c.*124A>G rs758102948 0.00017
NM_014908.4(DOLK):c.-211C>T rs565536230 0.00017
NM_014908.4(DOLK):c.1257C>G (p.Ile419Met) rs138962748 0.00016
NM_014908.4(DOLK):c.-194G>T rs886063516 0.00013
NM_014908.4(DOLK):c.-255C>T rs886063517 0.00013
NM_014908.4(DOLK):c.633C>T (p.Arg211=) rs147647278 0.00013
NM_014908.4(DOLK):c.1446G>A (p.Ala482=) rs201027607 0.00012
NM_014908.4(DOLK):c.192A>G (p.Leu64=) rs563156233 0.00009
NM_014908.4(DOLK):c.-269G>T rs371065378 0.00006
NM_014908.4(DOLK):c.-94G>T rs567989779 0.00004
NM_014908.4(DOLK):c.1166G>A (p.Arg389Gln) rs201984428 0.00004
NM_014908.3(DOLK):c.-411C>T rs201511915 0.00003
NM_014908.4(DOLK):c.*20G>A rs368635795 0.00003
NM_014908.4(DOLK):c.1130G>A (p.Arg377His) rs374317240 0.00003
NM_014908.4(DOLK):c.-22G>A rs754288997 0.00002
NM_014908.3(DOLK):c.-335G>C rs543331952 0.00001
NM_014908.3(DOLK):c.-394A>G rs750538185 0.00001
NM_014908.4(DOLK):c.-149G>A rs886063515 0.00001
NM_014908.4(DOLK):c.1196G>A (p.Arg399Gln) rs748688866 0.00001
NM_014908.4(DOLK):c.1290T>G (p.Gly430=) rs755691113 0.00001
NM_014908.4(DOLK):c.210C>G (p.Val70=) rs750368652 0.00001
NM_014908.4(DOLK):c.513T>C (p.Leu171=) rs886063514 0.00001
NM_014908.3(DOLK):c.-404G>A rs3750324
NM_014908.4(DOLK):c.18A>G (p.Pro6=) rs1841691192
NM_014908.4(DOLK):c.219C>G (p.Phe73Leu) rs761385789
NM_014908.4(DOLK):c.275G>C (p.Gly92Ala) rs1841684568
NM_014908.4(DOLK):c.621G>T (p.Gln207His) rs1841675660

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