ClinVar Miner

List of variants in gene KLC4 studied for not specified

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_201521.3(KLC4):c.79C>T (p.Arg27Trp) rs149718842 0.00039
NM_201521.3(KLC4):c.26G>A (p.Arg9Gln) rs140510055 0.00017
NM_201521.3(KLC4):c.578G>A (p.Arg193His) rs148687735 0.00014
NM_201521.3(KLC4):c.992C>T (p.Thr331Met) rs143779538 0.00014
NM_201521.3(KLC4):c.234T>G (p.Ile78Met) rs376752586 0.00011
NM_201521.3(KLC4):c.1073G>A (p.Arg358His) rs200624962 0.00009
NM_201521.3(KLC4):c.716A>G (p.Glu239Gly) rs748660660 0.00006
NM_201521.3(KLC4):c.1258G>A (p.Asp420Asn) rs184946966 0.00005
NM_201521.3(KLC4):c.461G>A (p.Arg154Gln) rs182587062 0.00005
NM_201521.3(KLC4):c.862G>C (p.Gly288Arg) rs752039826 0.00005
NM_201521.3(KLC4):c.1327G>A (p.Gly443Arg) rs752575112 0.00004
NM_201521.3(KLC4):c.1427G>A (p.Arg476His) rs748079269 0.00004
NM_201521.3(KLC4):c.1481G>A (p.Arg494Gln) rs768070146 0.00004
NM_201521.3(KLC4):c.47G>A (p.Arg16Gln) rs369814395 0.00004
NM_201521.3(KLC4):c.1302G>A (p.Met434Ile) rs761552573 0.00003
NM_201521.3(KLC4):c.1426C>T (p.Arg476Cys) rs557603845 0.00003
NM_201521.3(KLC4):c.1591G>A (p.Gly531Arg) rs144584070 0.00003
NM_201521.3(KLC4):c.1609G>C (p.Val537Leu) rs759833281 0.00003
NM_201521.3(KLC4):c.413C>T (p.Ala138Val) rs753156194 0.00003
NM_201521.3(KLC4):c.1138C>T (p.Arg380Trp) rs766306345 0.00002
NM_201521.3(KLC4):c.-26+538G>T rs1290048154 0.00001
NM_201521.3(KLC4):c.1222C>T (p.Arg408Cys) rs1279053938 0.00001
NM_201521.3(KLC4):c.1588G>A (p.Glu530Lys) rs772409801 0.00001
NM_201521.3(KLC4):c.1817G>A (p.Arg606Gln) rs767090972 0.00001
NM_201521.3(KLC4):c.218G>A (p.Arg73His) rs754500194 0.00001
NM_201521.3(KLC4):c.38C>G (p.Ala13Gly) rs1039864041 0.00001
NM_201521.3(KLC4):c.566A>G (p.Asn189Ser) rs777485770 0.00001
NM_201521.3(KLC4):c.869A>G (p.Asp290Gly) rs1447775480 0.00001
NM_201521.3(KLC4):c.-23C>T rs369556098
NM_201521.3(KLC4):c.1003G>C (p.Asp335His)
NM_201521.3(KLC4):c.1096A>G (p.Ile366Val) rs771648231
NM_201521.3(KLC4):c.1191G>C (p.Glu397Asp) rs2532877369
NM_201521.3(KLC4):c.1351G>C (p.Gly451Arg) rs779989406
NM_201521.3(KLC4):c.1358A>G (p.Tyr453Cys) rs1309018062
NM_201521.3(KLC4):c.1474C>T (p.Arg492Trp)
NM_201521.3(KLC4):c.1480C>T (p.Arg494Trp)
NM_201521.3(KLC4):c.1675C>T (p.Arg559Trp)
NM_201521.3(KLC4):c.1676G>A (p.Arg559Gln)
NM_201521.3(KLC4):c.1702C>T (p.Leu568Phe) rs2532890147
NM_201521.3(KLC4):c.1778A>G (p.Tyr593Cys)
NM_201521.3(KLC4):c.203C>A (p.Ala68Asp) rs768752379
NM_201521.3(KLC4):c.205C>T (p.Arg69Trp)
NM_201521.3(KLC4):c.236A>T (p.Glu79Val)
NM_201521.3(KLC4):c.260T>G (p.Val87Gly) rs370896483
NM_201521.3(KLC4):c.316C>T (p.Arg106Trp)
NM_201521.3(KLC4):c.317G>A (p.Arg106Gln)
NM_201521.3(KLC4):c.322C>G (p.Gln108Glu) rs2532837188
NM_201521.3(KLC4):c.385C>T (p.Arg129Trp)
NM_201521.3(KLC4):c.454C>A (p.Gln152Lys) rs779697205
NM_201521.3(KLC4):c.592A>C (p.Thr198Pro)
NM_201521.3(KLC4):c.599C>T (p.Ala200Val) rs917992543
NM_201521.3(KLC4):c.611G>T (p.Gly204Val)
NM_201521.3(KLC4):c.745C>T (p.His249Tyr) rs2532852102
NM_201521.3(KLC4):c.748C>A (p.Pro250Thr) rs373940349
NM_201521.3(KLC4):c.764T>C (p.Met255Thr)
NM_201521.3(KLC4):c.914A>G (p.Tyr305Cys) rs1227104134
NM_201521.3(KLC4):c.959G>A (p.Arg320Gln)

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