ClinVar Miner

List of variants in gene combination CHKB, CHKB-CPT1B reported as likely benign for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_005198.5(CHKB):c.249C>T (p.Phe83=) rs180979987 0.00176
NM_005198.5(CHKB):c.149A>G (p.Tyr50Cys) rs138205828 0.00169
NM_005198.5(CHKB):c.457T>C (p.Leu153=) rs146693439 0.00138
NM_005198.5(CHKB):c.14C>T (p.Ala5Val) rs199703765 0.00086
NM_005198.5(CHKB):c.597C>T (p.Ile199=) rs146409721 0.00034
NM_005198.5(CHKB):c.38C>T (p.Ala13Val) rs779585255 0.00026
NM_005198.5(CHKB):c.263C>T (p.Pro88Leu) rs146163970 0.00022
NM_005198.5(CHKB):c.819-18T>G rs550228390 0.00020
NM_005198.5(CHKB):c.621C>T (p.Leu207=) rs372742172 0.00014
NM_005198.5(CHKB):c.501T>G (p.Ile167Met) rs199704510 0.00012
NM_005198.5(CHKB):c.315G>A (p.Leu105=) rs369633837 0.00010
NM_005198.5(CHKB):c.928-16T>C rs774461264 0.00009
NM_005198.5(CHKB):c.1110C>T (p.Tyr370=) rs754077285 0.00008
NM_005198.5(CHKB):c.708C>T (p.Val236=) rs141934594 0.00008
NM_005198.5(CHKB):c.219C>T (p.Pro73=) rs751273046 0.00007
NM_005198.5(CHKB):c.737-14C>T rs961307091 0.00007
NM_005198.5(CHKB):c.928-19T>A rs373763595 0.00007
NM_005198.5(CHKB):c.1031+9G>A rs773203764 0.00004
NM_005198.5(CHKB):c.687A>G (p.Leu229=) rs754693809 0.00004
NM_005198.5(CHKB):c.737-16C>T rs773669615 0.00004
NM_005198.5(CHKB):c.279C>T (p.Ser93=) rs376846624 0.00003
NM_005198.5(CHKB):c.819-9T>C rs368960649 0.00003
NM_005198.5(CHKB):c.927+10C>G rs549171476 0.00003
NM_005198.5(CHKB):c.928-11A>G rs771040904 0.00003
NM_005198.5(CHKB):c.195G>A (p.Gln65=) rs774840848 0.00002
NM_005198.5(CHKB):c.333+17C>T rs777753875 0.00002
NM_005198.5(CHKB):c.581+8A>T rs1057523950 0.00002
NM_005198.5(CHKB):c.702G>A (p.Ser234=) rs139952595 0.00002
NM_005198.5(CHKB):c.745T>C (p.Leu249=) rs760310819 0.00002
NM_005198.5(CHKB):c.81G>A (p.Lys27=) rs774227072 0.00002
NM_005198.5(CHKB):c.928-4G>A rs751093137 0.00002
NM_005198.5(CHKB):c.1031+12G>A rs777277938 0.00001
NM_005198.5(CHKB):c.1031+20G>A rs747464297 0.00001
NM_005198.5(CHKB):c.1031+8A>C rs1472273128 0.00001
NM_005198.5(CHKB):c.1032-11C>T rs777009847 0.00001
NM_005198.5(CHKB):c.1032-4C>G rs761155794 0.00001
NM_005198.5(CHKB):c.1114-6C>T rs151123092 0.00001
NM_005198.5(CHKB):c.1173C>T (p.Val391=) rs980683552 0.00001
NM_005198.5(CHKB):c.138G>T (p.Glu46Asp) rs752292240 0.00001
NM_005198.5(CHKB):c.204G>A (p.Glu68=) rs1273220759 0.00001
NM_005198.5(CHKB):c.246C>T (p.Leu82=) rs1465614518 0.00001
NM_005198.5(CHKB):c.27C>T (p.Ala9=) rs950364450 0.00001
NM_005198.5(CHKB):c.354A>G (p.Leu118=) rs142607228 0.00001
NM_005198.5(CHKB):c.360C>T (p.Ser120=) rs745967029 0.00001
NM_005198.5(CHKB):c.42T>A (p.Val14=) rs2070726709 0.00001
NM_005198.5(CHKB):c.432G>A (p.Leu144=) rs1374991317 0.00001
NM_005198.5(CHKB):c.516G>A (p.Ala172=) rs200220080 0.00001
NM_005198.5(CHKB):c.633C>T (p.Asn211=) rs963611942 0.00001
NM_005198.5(CHKB):c.63C>T (p.Asp21=) rs763705112 0.00001
NM_005198.5(CHKB):c.677+16A>G rs777309411 0.00001
NM_005198.5(CHKB):c.678-12A>G rs749813559 0.00001
NM_005198.5(CHKB):c.6G>T (p.Ala2=) rs927716556 0.00001
NM_005198.5(CHKB):c.843T>C (p.Phe281=) rs760833908 0.00001
NM_005198.5(CHKB):c.927+8G>A rs1442580544 0.00001
NM_005198.5(CHKB):c.1031+11A>C
NM_005198.5(CHKB):c.1031+14G>T
NM_005198.5(CHKB):c.1031+19G>A
NM_005198.5(CHKB):c.1032-10C>T
NM_005198.5(CHKB):c.1032-20T>C
NM_005198.5(CHKB):c.1080G>A (p.Gln360=)
NM_005198.5(CHKB):c.1086C>G (p.Ser362=)
NM_005198.5(CHKB):c.1107T>G (p.Gly369=)
NM_005198.5(CHKB):c.1137G>A (p.Gln379=) rs1446164666
NM_005198.5(CHKB):c.1179C>G (p.Ser393=)
NM_005198.5(CHKB):c.120G>A (p.Ser40=) rs1367743295
NM_005198.5(CHKB):c.123G>A (p.Leu41=) rs2070724453
NM_005198.5(CHKB):c.144A>T (p.Arg48=) rs2070723755
NM_005198.5(CHKB):c.153A>G (p.Gln51=)
NM_005198.5(CHKB):c.159C>T (p.Cys53=) rs907132023
NM_005198.5(CHKB):c.165G>A (p.Glu55=)
NM_005198.5(CHKB):c.186C>A (p.Arg62=)
NM_005198.5(CHKB):c.210G>A (p.Arg70=)
NM_005198.5(CHKB):c.21T>A (p.Ala7=)
NM_005198.5(CHKB):c.222G>C (p.Val74=) rs2146658662
NM_005198.5(CHKB):c.224+11A>G
NM_005198.5(CHKB):c.240C>T (p.Asn80=)
NM_005198.5(CHKB):c.255C>T (p.Cys85=) rs1603443779
NM_005198.5(CHKB):c.261C>T (p.Leu87=) rs2146657812
NM_005198.5(CHKB):c.306T>A (p.Leu102=) rs1603443777
NM_005198.5(CHKB):c.333+13T>C
NM_005198.5(CHKB):c.333+18G>A
NM_005198.5(CHKB):c.333+19C>T
NM_005198.5(CHKB):c.333+9_333+10del rs2146657605
NM_005198.5(CHKB):c.334-11T>C
NM_005198.5(CHKB):c.334-12A>G
NM_005198.5(CHKB):c.334-16G>A
NM_005198.5(CHKB):c.334-17T>C
NM_005198.5(CHKB):c.334-31_334-18del rs1179098662
NM_005198.5(CHKB):c.336C>T (p.Gly112=)
NM_005198.5(CHKB):c.385C>A (p.Arg129=)
NM_005198.5(CHKB):c.390G>T (p.Ser130=) rs1299502169
NM_005198.5(CHKB):c.444C>A (p.Ile148=)
NM_005198.5(CHKB):c.447+12G>A rs749454476
NM_005198.5(CHKB):c.447+12G>C rs749454476
NM_005198.5(CHKB):c.447+20C>G
NM_005198.5(CHKB):c.447+8C>G
NM_005198.5(CHKB):c.447+9C>G
NM_005198.5(CHKB):c.453G>A (p.Arg151=)
NM_005198.5(CHKB):c.475C>A (p.Arg159=)
NM_005198.5(CHKB):c.504C>T (p.Ala168=)
NM_005198.5(CHKB):c.516G>T (p.Ala172=) rs200220080
NM_005198.5(CHKB):c.519A>G (p.Gln173=)
NM_005198.5(CHKB):c.546C>T (p.Thr182=)
NM_005198.5(CHKB):c.581+15T>G
NM_005198.5(CHKB):c.581+20A>G
NM_005198.5(CHKB):c.581+7C>G
NM_005198.5(CHKB):c.582-13C>T
NM_005198.5(CHKB):c.582-15T>C
NM_005198.5(CHKB):c.582-7G>T
NM_005198.5(CHKB):c.585C>T (p.Tyr195=)
NM_005198.5(CHKB):c.594G>A (p.Gln198=) rs1555894626
NM_005198.5(CHKB):c.673C>T (p.Leu225Phe) rs543829328
NM_005198.5(CHKB):c.677+11del
NM_005198.5(CHKB):c.677+18A>G
NM_005198.5(CHKB):c.678-16T>A
NM_005198.5(CHKB):c.678-6C>T
NM_005198.5(CHKB):c.67T>C (p.Leu23=)
NM_005198.5(CHKB):c.696C>T (p.Thr232=) rs750454672
NM_005198.5(CHKB):c.702G>T (p.Ser234=) rs139952595
NM_005198.5(CHKB):c.705A>C (p.Pro235=)
NM_005198.5(CHKB):c.736+11G>A
NM_005198.5(CHKB):c.737-15dup
NM_005198.5(CHKB):c.737-5C>T
NM_005198.5(CHKB):c.737-6C>T rs1172577845
NM_005198.5(CHKB):c.744C>A (p.Ile248=)
NM_005198.5(CHKB):c.753C>G (p.Leu251=)
NM_005198.5(CHKB):c.75G>A (p.Gln25=)
NM_005198.5(CHKB):c.780C>G (p.Leu260=)
NM_005198.5(CHKB):c.798G>A (p.Glu266=)
NM_005198.5(CHKB):c.801C>T (p.Tyr267=)
NM_005198.5(CHKB):c.810T>C (p.Tyr270=) rs750764003
NM_005198.5(CHKB):c.818+19C>T
NM_005198.5(CHKB):c.818+20T>A
NM_005198.5(CHKB):c.818+7C>T
NM_005198.5(CHKB):c.819-5C>T
NM_005198.5(CHKB):c.819-8T>G
NM_005198.5(CHKB):c.822C>T (p.Gly274=)
NM_005198.5(CHKB):c.834G>A (p.Gly278=)
NM_005198.5(CHKB):c.882T>C (p.Pro294=)
NM_005198.5(CHKB):c.912C>A (p.Pro304=)
NM_005198.5(CHKB):c.915T>A (p.Thr305=)
NM_005198.5(CHKB):c.924G>A (p.Gln308=) rs1569052662
NM_005198.5(CHKB):c.927+9G>C
NM_005198.5(CHKB):c.927+9G>T
NM_005198.5(CHKB):c.928-20C>A rs1441598274
NM_005198.5(CHKB):c.928-5C>T rs369532290
NM_005198.5(CHKB):c.928-7A>T
NM_005198.5(CHKB):c.990G>A (p.Glu330=)
NM_005198.5(CHKB):c.9C>T (p.Ala3=)

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