ClinVar Miner

List of variants in gene CAD studied for congenital disorder of glycosylation type I

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_004341.5(CAD):c.4773A>G (p.Ala1591=) rs1141313 0.44315
NM_004341.5(CAD):c.4930T>C (p.Phe1644Leu) rs144692793 0.00569
NM_004341.5(CAD):c.5058C>T (p.Asp1686=) rs61757649 0.00528
NM_004341.5(CAD):c.83-3C>T rs151119882 0.00138
NM_004341.5(CAD):c.5392C>A (p.Gln1798Lys) rs138840581 0.00062
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln) rs139332887 0.00028
NM_004341.5(CAD):c.461A>G (p.Asn154Ser) rs147694325 0.00027
NM_004341.5(CAD):c.1118G>A (p.Arg373Gln) rs779009526 0.00013
NM_004341.5(CAD):c.4208G>A (p.Arg1403Gln) rs368332006 0.00005
NM_004341.5(CAD):c.5365C>T (p.Arg1789Ter) rs62130681 0.00002
NM_004341.5(CAD):c.5488A>G (p.Met1830Val) rs747817554 0.00002
NM_004341.5(CAD):c.1352A>G (p.Tyr451Cys) rs770953907 0.00001
NM_004341.5(CAD):c.2995G>A (p.Val999Met) rs1475014505 0.00001
NM_004341.5(CAD):c.4315-1G>A rs1291590169 0.00001
NM_004341.5(CAD):c.4315-3C>T rs867496821 0.00001
NM_004341.5(CAD):c.4564-9C>G rs575379595 0.00001
NM_004341.5(CAD):c.4655C>T (p.Ala1552Val) rs1041556030 0.00001
NM_004341.5(CAD):c.4760T>C (p.Ile1587Thr) rs370372528 0.00001
NM_004341.5(CAD):c.6047G>A (p.Cys2016Tyr) rs768937191 0.00001
NM_004341.5(CAD):c.6071G>A (p.Arg2024Gln) rs763410987 0.00001
NM_004341.5(CAD):c.625C>G (p.Leu209Val) rs374182358 0.00001
NM_004341.5(CAD):c.859C>T (p.Arg287Cys) rs753478495 0.00001
NM_004341.5(CAD):c.1100G>A (p.Gly367Asp) rs766915720
NM_004341.5(CAD):c.1331A>G (p.Gln444Arg)
NM_004341.5(CAD):c.1843-1G>A rs769567624
NM_004341.5(CAD):c.1843-3C>T rs1057519262
NM_004341.5(CAD):c.208T>C (p.Phe70Leu) rs1674954573
NM_004341.5(CAD):c.223-2A>G rs1675149924
NM_004341.5(CAD):c.3512C>A (p.Pro1171Gln) rs770280820
NM_004341.5(CAD):c.3721del (p.Val1241fs) rs2148080342
NM_004341.5(CAD):c.4231A>G (p.Lys1411Glu)
NM_004341.5(CAD):c.4669C>G (p.Leu1557Val) rs199990394
NM_004341.5(CAD):c.5104C>T (p.Pro1702Ser) rs529298259
NM_004341.5(CAD):c.5318C>G (p.Pro1773Arg)
NM_004341.5(CAD):c.5545_5546del (p.Phe1849fs) rs1676249686
NM_004341.5(CAD):c.571C>T (p.Arg191Ter) rs1572423883
NM_004341.5(CAD):c.610C>T (p.Pro204Ser)
NM_004341.5(CAD):c.98T>G (p.Met33Arg) rs751610198

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