ClinVar Miner

List of variants reported as uncertain significance for Congenital disorder of glycosylation type Ir by Invitae

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Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_005216.5(DDOST):c.508G>A (p.Val170Ile) rs111334879 0.00063
NM_005216.5(DDOST):c.596C>T (p.Thr199Met) rs142593688 0.00051
NM_005216.5(DDOST):c.142C>T (p.Arg48Trp) rs140409217 0.00050
NM_005216.5(DDOST):c.712G>A (p.Val238Ile) rs150551993 0.00046
NM_005216.5(DDOST):c.917A>G (p.Asn306Ser) rs764755742 0.00042
NM_005216.5(DDOST):c.509T>C (p.Val170Ala) rs146767054 0.00026
NM_005216.5(DDOST):c.752T>C (p.Phe251Ser) rs199782279 0.00014
NM_005216.5(DDOST):c.733G>A (p.Asp245Asn) rs780103981 0.00011
NM_005216.5(DDOST):c.265+6G>C rs372328091 0.00009
NM_005216.5(DDOST):c.236A>G (p.Asn79Ser) rs773982629 0.00006
NM_005216.5(DDOST):c.573C>A (p.Asn191Lys) rs1038330038 0.00006
NM_005216.5(DDOST):c.815A>G (p.Tyr272Cys) rs369105590 0.00006
NM_005216.5(DDOST):c.627G>A (p.Pro209=) rs772970010 0.00004
NM_005216.5(DDOST):c.710G>A (p.Arg237His) rs774094300 0.00004
NM_005216.5(DDOST):c.955G>A (p.Val319Met) rs921210147 0.00004
NM_005216.5(DDOST):c.1136G>A (p.Arg379Gln) rs74526704 0.00003
NM_005216.5(DDOST):c.109C>T (p.Leu37Phe) rs150936849 0.00002
NM_005216.5(DDOST):c.619T>G (p.Phe207Val) rs145758022 0.00002
NM_005216.5(DDOST):c.1096G>A (p.Asp366Asn) rs886045864 0.00001
NM_005216.5(DDOST):c.10A>G (p.Ser4Gly) rs1166127455 0.00001
NM_005216.5(DDOST):c.1196C>T (p.Thr399Met) rs530990753 0.00001
NM_005216.5(DDOST):c.119G>A (p.Arg40Gln) rs761548809 0.00001
NM_005216.5(DDOST):c.154G>A (p.Asp52Asn) rs778335267 0.00001
NM_005216.5(DDOST):c.188A>C (p.Asp63Ala) rs2053427789 0.00001
NM_005216.5(DDOST):c.502A>G (p.Thr168Ala) rs372948054 0.00001
NM_005216.5(DDOST):c.597G>A (p.Thr199=) rs755031163 0.00001
NM_005216.5(DDOST):c.709C>T (p.Arg237Cys) rs748804145 0.00001
NC_000001.10:g.(?_19199339)_(22987879_?)dup
NC_000001.11:g.(?_20652359)_(20661421_?)del
NM_005216.4(DDOST):c.206_211delACCGGG rs769669810
NM_005216.4(DDOST):c.32C>G (p.Ser11Cys) rs140102515
NM_005216.4(DDOST):c.32C>T (p.Ser11Phe) rs140102515
NM_005216.5(DDOST):c.-18T>G rs1196325942
NM_005216.5(DDOST):c.-5G>A
NM_005216.5(DDOST):c.1053GAA[2] (p.Lys354del) rs776647294
NM_005216.5(DDOST):c.1064-2A>C
NM_005216.5(DDOST):c.1151A>G (p.His384Arg)
NM_005216.5(DDOST):c.1177G>A (p.Val393Met)
NM_005216.5(DDOST):c.1210T>C (p.Phe404Leu)
NM_005216.5(DDOST):c.1220C>T (p.Ser407Leu)
NM_005216.5(DDOST):c.1226A>G (p.Tyr409Cys)
NM_005216.5(DDOST):c.1243G>A (p.Ala415Thr)
NM_005216.5(DDOST):c.1284CTT[1] (p.Phe429del)
NM_005216.5(DDOST):c.1287C>A (p.Phe429Leu)
NM_005216.5(DDOST):c.154+5G>A
NM_005216.5(DDOST):c.167A>G (p.Glu56Gly) rs2154534449
NM_005216.5(DDOST):c.173C>T (p.Thr58Ile)
NM_005216.5(DDOST):c.237T>A (p.Asn79Lys)
NM_005216.5(DDOST):c.254C>T (p.Pro85Leu)
NM_005216.5(DDOST):c.278A>G (p.Asn93Ser)
NM_005216.5(DDOST):c.280A>T (p.Ile94Phe)
NM_005216.5(DDOST):c.287T>C (p.Val96Ala)
NM_005216.5(DDOST):c.308T>C (p.Ile103Thr)
NM_005216.5(DDOST):c.331G>A (p.Val111Ile)
NM_005216.5(DDOST):c.352+2T>C
NM_005216.5(DDOST):c.382T>G (p.Cys128Gly)
NM_005216.5(DDOST):c.419T>C (p.Ile140Thr)
NM_005216.5(DDOST):c.427C>G (p.His143Asp) rs2154534284
NM_005216.5(DDOST):c.456+4A>G
NM_005216.5(DDOST):c.532A>G (p.Ile178Val)
NM_005216.5(DDOST):c.579G>A (p.Leu193=)
NM_005216.5(DDOST):c.583C>G (p.Leu195Val)
NM_005216.5(DDOST):c.626C>T (p.Pro209Leu)
NM_005216.5(DDOST):c.632A>T (p.Lys211Met)
NM_005216.5(DDOST):c.635C>T (p.Pro212Leu)
NM_005216.5(DDOST):c.656C>T (p.Ala219Val)
NM_005216.5(DDOST):c.687_688delinsAA (p.Leu230Ile)
NM_005216.5(DDOST):c.68T>G (p.Val23Gly)
NM_005216.5(DDOST):c.694G>T (p.Ala232Ser)
NM_005216.5(DDOST):c.6G>T (p.Glu2Asp)
NM_005216.5(DDOST):c.728C>T (p.Ser243Phe) rs2053339801
NM_005216.5(DDOST):c.751TTC[1] (p.Phe252del) rs751872569
NM_005216.5(DDOST):c.782C>T (p.Pro261Leu) rs2154534235
NM_005216.5(DDOST):c.795-3C>G
NM_005216.5(DDOST):c.795G>A (p.Arg265=)
NM_005216.5(DDOST):c.826G>A (p.Val276Met)
NM_005216.5(DDOST):c.82C>T (p.Pro28Ser)
NM_005216.5(DDOST):c.838C>T (p.Arg280Cys)
NM_005216.5(DDOST):c.839G>A (p.Arg280His)
NM_005216.5(DDOST):c.83C>T (p.Pro28Leu)
NM_005216.5(DDOST):c.846del (p.Phe283fs)
NM_005216.5(DDOST):c.851AGG[2] (p.Glu286del) rs1557571295
NM_005216.5(DDOST):c.868C>T (p.Arg290Cys)
NM_005216.5(DDOST):c.869G>T (p.Arg290Leu) rs367807479
NM_005216.5(DDOST):c.884C>T (p.Ser295Phe)
NM_005216.5(DDOST):c.897G>A (p.Val299=)
NM_005216.5(DDOST):c.900C>T (p.Gly300=)
NM_005216.5(DDOST):c.908C>T (p.Ala303Val)

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