ClinVar Miner

List of variants reported as likely benign for congenital disorder of glycosylation, type IAA

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_138459.5(NUS1):c.506C>G (p.Pro169Arg) rs150646335 0.00116
NM_138459.5(NUS1):c.63G>T (p.Thr21=) rs550854234 0.00065
NM_138459.5(NUS1):c.578C>T (p.Pro193Leu) rs146009370 0.00023
NM_138459.5(NUS1):c.69C>G (p.Thr23=) rs568916715 0.00022
NM_138459.5(NUS1):c.318C>T (p.Thr106=) rs573584810 0.00011
NM_138459.5(NUS1):c.791+17G>A rs185389978 0.00007
NM_138459.5(NUS1):c.144C>T (p.Val48=) rs767517042 0.00006
NM_138459.5(NUS1):c.691+11T>A rs201025128 0.00006
NM_138459.5(NUS1):c.699T>C (p.Asn233=) rs746621138 0.00006
NM_138459.5(NUS1):c.792-15G>A rs199793068 0.00006
NM_138459.5(NUS1):c.288G>A (p.Lys96=) rs566608977 0.00004
NM_138459.5(NUS1):c.822T>C (p.Tyr274=) rs759399174 0.00004
NM_138459.5(NUS1):c.870T>G (p.Arg290=) rs529109392 0.00004
NM_138459.5(NUS1):c.692-19G>A rs754104717 0.00003
NM_138459.5(NUS1):c.791+16_791+17insTTTGTTTAGATTCA rs1201766536 0.00003
NM_138459.5(NUS1):c.791+19_791+20insAT rs1239155154 0.00003
NM_138459.5(NUS1):c.153G>T (p.Pro51=) rs868271796 0.00002
NM_138459.5(NUS1):c.324G>A (p.Val108=) rs769619847 0.00002
NM_138459.5(NUS1):c.24G>A (p.Val8=) rs745434007 0.00001
NM_138459.5(NUS1):c.264C>T (p.Arg88=) rs959021329 0.00001
NM_138459.5(NUS1):c.279C>T (p.Ser93=) rs1298752813 0.00001
NM_138459.5(NUS1):c.330G>A (p.Gln110=) rs1414061827 0.00001
NM_138459.5(NUS1):c.354G>C (p.Ala118=) rs1456838164 0.00001
NM_138459.5(NUS1):c.378C>T (p.Ala126=) rs774571642 0.00001
NM_138459.5(NUS1):c.402C>T (p.Val134=) rs769107043 0.00001
NM_138459.5(NUS1):c.415+9C>T rs1772975415 0.00001
NM_138459.5(NUS1):c.416-10T>C rs751156157 0.00001
NM_138459.5(NUS1):c.416-9T>G rs1328227461 0.00001
NM_138459.5(NUS1):c.541+19T>C rs756091140 0.00001
NM_138459.5(NUS1):c.579G>A (p.Pro193=) rs753713015 0.00001
NM_138459.5(NUS1):c.672T>C (p.Asp224=) rs772889914 0.00001
NM_138459.5(NUS1):c.675G>A (p.Thr225=) rs763523987 0.00001
NM_138459.5(NUS1):c.691+13A>T rs1303197797 0.00001
NM_138459.5(NUS1):c.792-16C>T rs1049247260 0.00001
NM_138459.5(NUS1):c.792-17C>T rs146457283 0.00001
NM_138459.5(NUS1):c.798G>A (p.Leu266=) rs943172341 0.00001
NM_138459.5(NUS1):c.114G>C (p.Arg38=)
NM_138459.5(NUS1):c.117C>G (p.Arg39=)
NM_138459.5(NUS1):c.117C>T (p.Arg39=) rs1333336720
NM_138459.5(NUS1):c.120C>T (p.Cys40=)
NM_138459.5(NUS1):c.138C>G (p.Ala46=)
NM_138459.5(NUS1):c.156C>G (p.Leu52=)
NM_138459.5(NUS1):c.165G>A (p.Thr55=)
NM_138459.5(NUS1):c.180G>A (p.Pro60=) rs1772967652
NM_138459.5(NUS1):c.195C>T (p.Asn65=)
NM_138459.5(NUS1):c.204C>T (p.His68=)
NM_138459.5(NUS1):c.216G>A (p.Pro72=)
NM_138459.5(NUS1):c.225G>C (p.Gly75=)
NM_138459.5(NUS1):c.231C>T (p.Cys77=)
NM_138459.5(NUS1):c.240C>A (p.Ala80=)
NM_138459.5(NUS1):c.240C>G (p.Ala80=)
NM_138459.5(NUS1):c.243A>G (p.Ala81=)
NM_138459.5(NUS1):c.249C>T (p.His83=)
NM_138459.5(NUS1):c.24G>T (p.Val8=) rs745434007
NM_138459.5(NUS1):c.270C>T (p.Asp90=)
NM_138459.5(NUS1):c.276T>C (p.Arg92=)
NM_138459.5(NUS1):c.280T>C (p.Leu94=)
NM_138459.5(NUS1):c.291G>A (p.Leu97=)
NM_138459.5(NUS1):c.30G>A (p.Arg10=)
NM_138459.5(NUS1):c.30G>T (p.Arg10=) rs937504375
NM_138459.5(NUS1):c.336C>T (p.Pro112=)
NM_138459.5(NUS1):c.351C>T (p.Ile117=)
NM_138459.5(NUS1):c.354G>A (p.Ala118=)
NM_138459.5(NUS1):c.360C>A (p.Leu120=) rs1772974013
NM_138459.5(NUS1):c.36G>A (p.Leu12=) rs2114674325
NM_138459.5(NUS1):c.390C>G (p.Ser130=)
NM_138459.5(NUS1):c.390C>T (p.Ser130=)
NM_138459.5(NUS1):c.393C>T (p.Tyr131=) rs1485120199
NM_138459.5(NUS1):c.39C>T (p.His13=)
NM_138459.5(NUS1):c.416-11C>T
NM_138459.5(NUS1):c.416-6T>C rs754507170
NM_138459.5(NUS1):c.416-6T>G rs754507170
NM_138459.5(NUS1):c.417T>C (p.Gly139=)
NM_138459.5(NUS1):c.459A>G (p.Leu153=) rs2114686717
NM_138459.5(NUS1):c.45G>C (p.Leu15=)
NM_138459.5(NUS1):c.45G>T (p.Leu15=)
NM_138459.5(NUS1):c.480G>A (p.Leu160=) rs2114686734
NM_138459.5(NUS1):c.519T>C (p.Asn173=)
NM_138459.5(NUS1):c.541+10A>C rs1051471000
NM_138459.5(NUS1):c.541+8T>C rs1250234517
NM_138459.5(NUS1):c.542-20T>C
NM_138459.5(NUS1):c.542-9T>A
NM_138459.5(NUS1):c.542-9T>C
NM_138459.5(NUS1):c.561A>T (p.Ala187=) rs767054326
NM_138459.5(NUS1):c.567G>A (p.Lys189=)
NM_138459.5(NUS1):c.573G>A (p.Leu191=) rs1052232
NM_138459.5(NUS1):c.573G>T (p.Leu191=)
NM_138459.5(NUS1):c.57C>T (p.His19=)
NM_138459.5(NUS1):c.585T>C (p.Asp195=)
NM_138459.5(NUS1):c.612T>C (p.Ala204=) rs1382268428
NM_138459.5(NUS1):c.627G>A (p.Gln209=)
NM_138459.5(NUS1):c.63G>C (p.Thr21=) rs550854234
NM_138459.5(NUS1):c.648G>A (p.Lys216=)
NM_138459.5(NUS1):c.669A>T (p.Val223=)
NM_138459.5(NUS1):c.66C>A (p.Leu22=) rs1772962927
NM_138459.5(NUS1):c.676T>C (p.Leu226=) rs1773283339
NM_138459.5(NUS1):c.681C>G (p.Ala227=)
NM_138459.5(NUS1):c.691+12T>A rs761687791
NM_138459.5(NUS1):c.691+12T>G rs761687791
NM_138459.5(NUS1):c.691+12TA[7] rs770616856
NM_138459.5(NUS1):c.691+19A>G rs1342549880
NM_138459.5(NUS1):c.691+7T>G rs1373920649
NM_138459.5(NUS1):c.691+8T>G
NM_138459.5(NUS1):c.692-18TATT[2]
NM_138459.5(NUS1):c.6G>C (p.Thr2=)
NM_138459.5(NUS1):c.750A>G (p.Thr250=)
NM_138459.5(NUS1):c.756C>T (p.Gly252=)
NM_138459.5(NUS1):c.762T>G (p.Leu254=) rs2114693923
NM_138459.5(NUS1):c.765C>T (p.Pro255=)
NM_138459.5(NUS1):c.791+16C>G
NM_138459.5(NUS1):c.791+16C>T
NM_138459.5(NUS1):c.791+7A>G rs749556280
NM_138459.5(NUS1):c.791+7A>T
NM_138459.5(NUS1):c.791+9_791+12del rs1213017281
NM_138459.5(NUS1):c.792-13G>T rs1185248187
NM_138459.5(NUS1):c.792-18C>T
NM_138459.5(NUS1):c.792-19C>T
NM_138459.5(NUS1):c.792-20C>T
NM_138459.5(NUS1):c.796T>C (p.Leu266=)
NM_138459.5(NUS1):c.807C>T (p.His269=)
NM_138459.5(NUS1):c.810A>G (p.Leu270=)
NM_138459.5(NUS1):c.825G>A (p.Glu275=)
NM_138459.5(NUS1):c.828C>T (p.Asp276=)
NM_138459.5(NUS1):c.867G>A (p.Gln289=)
NM_138459.5(NUS1):c.882G>A (p.Ter294=)
NM_138459.5(NUS1):c.90C>T (p.Phe30=)

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