ClinVar Miner

List of variants in gene CPS1 reported as uncertain significance by Invitae

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Total variants: 69
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HGVS dbSNP
NC_000002.12:g.(?_210658579)_(210678005_?)del
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val) rs138424013
NM_001875.5(CPS1):c.1039G>T (p.Ala347Ser)
NM_001875.5(CPS1):c.104G>A (p.Gly35Asp) rs1574520391
NM_001875.5(CPS1):c.1109C>G (p.Pro370Arg)
NM_001875.5(CPS1):c.1201G>C (p.Gly401Arg) rs760895692
NM_001875.5(CPS1):c.1208C>G (p.Ala403Gly)
NM_001875.5(CPS1):c.121G>T (p.Val41Phe) rs148708735
NM_001875.5(CPS1):c.1307G>A (p.Gly436Asp) rs1553511785
NM_001875.5(CPS1):c.1365A>C (p.Glu455Asp)
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile) rs199878637
NM_001875.5(CPS1):c.1520G>A (p.Gly507Asp) rs1255335680
NM_001875.5(CPS1):c.154G>A (p.Asp52Asn)
NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr) rs142369181
NM_001875.5(CPS1):c.1648T>C (p.Phe550Leu) rs1016767752
NM_001875.5(CPS1):c.1673A>G (p.Asn558Ser)
NM_001875.5(CPS1):c.1693T>A (p.Phe565Ile) rs773713162
NM_001875.5(CPS1):c.1754T>C (p.Met585Thr)
NM_001875.5(CPS1):c.1949T>C (p.Met650Thr)
NM_001875.5(CPS1):c.2011A>G (p.Thr671Ala)
NM_001875.5(CPS1):c.2066G>A (p.Arg689His)
NM_001875.5(CPS1):c.2192+6A>T rs201058019
NM_001875.5(CPS1):c.2275T>A (p.Ser759Thr)
NM_001875.5(CPS1):c.236+5G>A rs1553509024
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys) rs201716417
NM_001875.5(CPS1):c.2441G>A (p.Arg814Gln) rs200731808
NM_001875.5(CPS1):c.2458A>G (p.Ile820Val)
NM_001875.5(CPS1):c.254C>A (p.Thr85Asn) rs770250368
NM_001875.5(CPS1):c.2693C>A (p.Ser898Tyr)
NM_001875.5(CPS1):c.2720C>A (p.Ala907Glu)
NM_001875.5(CPS1):c.2810T>A (p.Ile937Asn) rs760714614
NM_001875.5(CPS1):c.2845G>A (p.Ala949Thr) rs537170841
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser) rs150485422
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val) rs121912595
NM_001875.5(CPS1):c.2993C>T (p.Ser998Phe) rs1404696893
NM_001875.5(CPS1):c.303T>G (p.Ile101Met) rs1559084624
NM_001875.5(CPS1):c.3069C>G (p.Asp1023Glu) rs1559123272
NM_001875.5(CPS1):c.3112G>C (p.Glu1038Gln)
NM_001875.5(CPS1):c.3173G>C (p.Gly1058Ala)
NM_001875.5(CPS1):c.3272T>G (p.Ile1091Ser)
NM_001875.5(CPS1):c.3395A>G (p.Tyr1132Cys)
NM_001875.5(CPS1):c.3428T>C (p.Phe1143Ser)
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val) rs766125631
NM_001875.5(CPS1):c.3472G>A (p.Val1158Ile)
NM_001875.5(CPS1):c.3480+5T>C
NM_001875.5(CPS1):c.3521G>A (p.Arg1174Gln)
NM_001875.5(CPS1):c.3523G>A (p.Glu1175Lys)
NM_001875.5(CPS1):c.3596C>A (p.Ala1199Glu)
NM_001875.5(CPS1):c.3608C>T (p.Ser1203Leu)
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln) rs778117194
NM_001875.5(CPS1):c.4094G>A (p.Gly1365Asp)
NM_001875.5(CPS1):c.4112G>A (p.Arg1371Gln) rs765106604
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) rs150966847
NM_001875.5(CPS1):c.436A>G (p.Thr146Ala)
NM_001875.5(CPS1):c.4373A>T (p.Asp1458Val)
NM_001875.5(CPS1):c.4382T>A (p.Ile1461Asn) rs1559142189
NM_001875.5(CPS1):c.4412A>T (p.Lys1471Ile)
NM_001875.5(CPS1):c.528G>A (p.Lys176=) rs1559086441
NM_001875.5(CPS1):c.586A>G (p.Asn196Asp) rs770935194
NM_001875.5(CPS1):c.622-3C>T rs1574557868
NM_001875.5(CPS1):c.655A>G (p.Lys219Glu)
NM_001875.5(CPS1):c.697C>T (p.Arg233Cys) rs767905306
NM_001875.5(CPS1):c.713G>A (p.Arg238Gln) rs147294932
NM_001875.5(CPS1):c.773G>C (p.Gly258Ala)
NM_001875.5(CPS1):c.785C>T (p.Ala262Val)
NM_001875.5(CPS1):c.856C>T (p.Arg286Cys)
NM_001875.5(CPS1):c.883A>G (p.Thr295Ala)
NM_001875.5(CPS1):c.891C>A (p.Asn297Lys)
NM_001875.5(CPS1):c.994A>T (p.Ile332Phe)

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