ClinVar Miner

List of variants in gene SNRNP200 reported as likely benign for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_014014.5(SNRNP200):c.5775C>G (p.Ala1925=) rs72825880 0.01765
NM_014014.5(SNRNP200):c.1159A>G (p.Met387Val) rs142729495 0.00369
NM_014014.5(SNRNP200):c.3654C>T (p.Ser1218=) rs3214060 0.00353
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile) rs143898031 0.00328
NM_014014.5(SNRNP200):c.5664C>T (p.His1888=) rs139731897 0.00289
NM_014014.5(SNRNP200):c.*101A>G rs184527047 0.00193
NM_014014.5(SNRNP200):c.*37A>G rs189361486 0.00183
NM_014014.5(SNRNP200):c.3315A>G (p.Ala1105=) rs151063400 0.00165
NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=) rs147427344 0.00133
NM_014014.5(SNRNP200):c.3005A>G (p.Asn1002Ser) rs143529458 0.00093
NM_014014.5(SNRNP200):c.1854T>C (p.His618=) rs147622706 0.00056
NM_014014.5(SNRNP200):c.6369C>T (p.Ser2123=) rs61753580 0.00047
NM_014014.5(SNRNP200):c.2800A>G (p.Thr934Ala) rs149616320 0.00042
NM_014014.5(SNRNP200):c.982+10T>C rs371450437 0.00040
NM_014014.5(SNRNP200):c.5538C>T (p.Ile1846=) rs201513678 0.00015
NM_014014.5(SNRNP200):c.4393-10C>T rs372636600 0.00014
NM_014014.5(SNRNP200):c.*100C>T rs3214064 0.00010
NM_014014.5(SNRNP200):c.90G>C (p.Arg30=) rs374762800 0.00009
NM_014014.5(SNRNP200):c.4377C>T (p.Ile1459=) rs191438128 0.00004
NM_014014.5(SNRNP200):c.5943T>C (p.Ser1981=) rs754294342 0.00002
NM_014014.5(SNRNP200):c.4080A>T (p.Ala1360=) rs547112938 0.00001
NM_014014.5(SNRNP200):c.382-13T>C rs759075763
NM_014014.5(SNRNP200):c.3897C>G (p.Thr1299=) rs144934076
NM_014014.5(SNRNP200):c.5983G>A (p.Ala1995Thr) rs201691299

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