ClinVar Miner

List of variants in gene CHUK reported as uncertain significance for not provided

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001278.5(CHUK):c.1569+6A>C rs371653189 0.00018
NM_001278.5(CHUK):c.1535A>G (p.Lys512Arg) rs368462852 0.00016
NM_001278.5(CHUK):c.2086T>C (p.Cys696Arg) rs79119174 0.00016
NM_001278.5(CHUK):c.2054C>T (p.Pro685Leu) rs148373303 0.00014
NM_001278.5(CHUK):c.1688G>A (p.Arg563His) rs144642900 0.00011
NM_001278.5(CHUK):c.677A>C (p.Gln226Pro) rs369262180 0.00008
NM_001278.5(CHUK):c.1150G>A (p.Val384Ile) rs151061868 0.00007
NM_001278.5(CHUK):c.1559A>G (p.His520Arg) rs777436676 0.00006
NM_001278.5(CHUK):c.1027C>T (p.Arg343Cys) rs762306632 0.00003
NM_001278.5(CHUK):c.1258A>G (p.Ile420Val) rs144294658 0.00002
NM_001278.5(CHUK):c.1687C>T (p.Arg563Cys) rs755945163 0.00002
NM_001278.5(CHUK):c.2006C>G (p.Ser669Cys) rs147094701 0.00002
NM_001278.5(CHUK):c.1646A>G (p.Tyr549Cys) rs373576121 0.00001
NM_001278.5(CHUK):c.377G>A (p.Ser126Asn) rs778573597 0.00001
NM_001278.5(CHUK):c.1025A>G (p.Glu342Gly)
NM_001278.5(CHUK):c.1036G>A (p.Gly346Arg)
NM_001278.5(CHUK):c.1046C>G (p.Thr349Ser)
NM_001278.5(CHUK):c.106G>A (p.Glu36Lys)
NM_001278.5(CHUK):c.1094G>A (p.Arg365Gln)
NM_001278.5(CHUK):c.1128T>C (p.Val376=) rs2134229242
NM_001278.5(CHUK):c.1136G>A (p.Cys379Tyr) rs2134225633
NM_001278.5(CHUK):c.1219G>A (p.Val407Ile)
NM_001278.5(CHUK):c.1231+3A>G
NM_001278.5(CHUK):c.1270C>G (p.Arg424Gly) rs483352712
NM_001278.5(CHUK):c.1270C>T (p.Arg424Cys)
NM_001278.5(CHUK):c.1294C>T (p.His432Tyr)
NM_001278.5(CHUK):c.139C>T (p.Arg47Cys) rs749480637
NM_001278.5(CHUK):c.1444T>A (p.Phe482Ile)
NM_001278.5(CHUK):c.1457G>T (p.Ser486Ile)
NM_001278.5(CHUK):c.1496C>T (p.Thr499Met)
NM_001278.5(CHUK):c.1771G>A (p.Val591Met)
NM_001278.5(CHUK):c.1841G>A (p.Cys614Tyr) rs2134207179
NM_001278.5(CHUK):c.185T>A (p.Ile62Asn)
NM_001278.5(CHUK):c.1908C>A (p.Asp636Glu)
NM_001278.5(CHUK):c.1958T>G (p.Leu653Arg) rs1057524734
NM_001278.5(CHUK):c.201-20A>G
NM_001278.5(CHUK):c.215A>G (p.Asn72Ser)
NM_001278.5(CHUK):c.2209-11C>G
NM_001278.5(CHUK):c.2231C>T (p.Thr744Ile) rs2134202317
NM_001278.5(CHUK):c.224A>G (p.Lys75Arg) rs2134249107
NM_001278.5(CHUK):c.337T>G (p.Cys113Gly)
NM_001278.5(CHUK):c.385+4C>A
NM_001278.5(CHUK):c.385+4C>T rs374740759
NM_001278.5(CHUK):c.548G>C (p.Gly183Ala) rs2134244139
NM_001278.5(CHUK):c.626C>T (p.Thr209Ile)
NM_001278.5(CHUK):c.896G>C (p.Arg299Thr)
NM_001278.5(CHUK):c.907T>G (p.Leu303Val) rs1845898420
NM_001278.5(CHUK):c.923T>C (p.Leu308Ser)
NM_001278.5(CHUK):c.989C>T (p.Pro330Leu)

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