ClinVar Miner

List of variants in gene NCAPH2, SCO2 studied for muscle tissue disorder

Included ClinVar conditions (1094):
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Gene type:
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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_005138.3(SCO2):c.763C>A (p.Arg255=) rs112793292 0.00755
NM_005138.3(SCO2):c.201C>T (p.Phe67=) rs61748568 0.00240
NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs) rs749838192 0.00091
NM_005138.3(SCO2):c.341G>A (p.Arg114His) rs145100473 0.00076
NM_005138.3(SCO2):c.713C>T (p.Thr238Met) rs149439760 0.00039
NM_005138.3(SCO2):c.576C>T (p.Thr192=) rs201909075 0.00035
NM_005138.3(SCO2):c.378G>A (p.Met126Ile) rs150880212 0.00025
NM_005138.3(SCO2):c.127C>G (p.Pro43Ala) rs147185850 0.00022
NM_005138.3(SCO2):c.303G>C (p.Gln101His) rs141551295 0.00014
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys) rs74315511 0.00011
NM_005138.3(SCO2):c.162C>T (p.Gly54=) rs139545104 0.00010
NM_005138.3(SCO2):c.173G>A (p.Arg58Gln) rs375383752 0.00009
NM_005138.3(SCO2):c.784C>T (p.Arg262Cys) rs201174948 0.00009
NM_005138.3(SCO2):c.541G>A (p.Val181Ile) rs147624681 0.00007
NM_005138.3(SCO2):c.157C>T (p.Gln53Ter) rs74315510 0.00004
NM_005138.3(SCO2):c.723C>T (p.Tyr241=) rs375345044 0.00004
NM_005138.3(SCO2):c.244A>G (p.Lys82Glu) rs765425160 0.00003
NM_005138.3(SCO2):c.281T>C (p.Leu94Pro) rs138294250 0.00003
NM_005138.3(SCO2):c.616C>T (p.Arg206Cys) rs748770403 0.00003
NM_005138.3(SCO2):c.178C>T (p.Arg60Trp) rs753779965 0.00002
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter) rs74315512 0.00002
NM_005138.3(SCO2):c.512G>A (p.Arg171Gln) rs775173963 0.00002
NM_005138.3(SCO2):c.406A>C (p.Ile136Leu) rs781539081 0.00001
NM_005138.3(SCO2):c.4C>G (p.Leu2Val) rs747642461 0.00001
NM_005138.3(SCO2):c.511C>T (p.Arg171Trp) rs28937598 0.00001
NM_005138.3(SCO2):c.535C>T (p.Arg179Cys) rs780314255 0.00001
NM_005138.3(SCO2):c.107G>A (p.Trp36Ter) rs121908508
NM_005138.3(SCO2):c.120_135del (p.Gly42fs)
NM_005138.3(SCO2):c.135_136del (p.Glu45fs)
NM_005138.3(SCO2):c.179_188dup (p.Ile63fs) rs1467767014
NM_005138.3(SCO2):c.202G>A (p.Gly68Arg)
NM_005138.3(SCO2):c.202G>C (p.Gly68Arg)
NM_005138.3(SCO2):c.221C>A (p.Ala74Asp)
NM_005138.3(SCO2):c.225G>A (p.Trp75Ter)
NM_005138.3(SCO2):c.226C>T (p.Leu76=) rs942543259
NM_005138.3(SCO2):c.227_230del (p.Leu76fs)
NM_005138.3(SCO2):c.233_236delinsA (p.Leu78_Arg79delinsGln)
NM_005138.3(SCO2):c.250A>G (p.Arg84Gly)
NM_005138.3(SCO2):c.256C>T (p.Gln86Ter) rs2069218741
NM_005138.3(SCO2):c.276A>G (p.Glu92=) rs886057630
NM_005138.3(SCO2):c.2T>C (p.Met1Thr) rs1603441682
NM_005138.3(SCO2):c.327_328del (p.His109fs) rs1403421269
NM_005138.3(SCO2):c.358C>T (p.Arg120Trp)
NM_005138.3(SCO2):c.364C>T (p.Gln122Ter)
NM_005138.3(SCO2):c.386G>A (p.Gly129Asp)
NM_005138.3(SCO2):c.398G>A (p.Cys133Tyr) rs28937868
NM_005138.3(SCO2):c.401_402del (p.Pro134fs)
NM_005138.3(SCO2):c.45_46del (p.Gln16fs)
NM_005138.3(SCO2):c.481C>T (p.Gln161Ter)
NM_005138.3(SCO2):c.508G>C (p.Glu170Gln) rs753614511
NM_005138.3(SCO2):c.514_515dup (p.Asp172fs)
NM_005138.3(SCO2):c.533C>T (p.Ala178Val)
NM_005138.3(SCO2):c.544C>T (p.Gln182Ter)
NM_005138.3(SCO2):c.563del (p.Leu188fs)
NM_005138.3(SCO2):c.577G>A (p.Gly193Ser)
NM_005138.3(SCO2):c.609_610del (p.His203fs)
NM_005138.3(SCO2):c.652dup (p.Gln218fs) rs2148670938
NM_005138.3(SCO2):c.672_682del (p.Ser225fs)
NM_005138.3(SCO2):c.674C>T (p.Ser225Phe) rs80358232
NM_005138.3(SCO2):c.738G>A (p.Ser246=) rs200605042
NM_005138.3(SCO2):c.738G>C (p.Ser246=) rs200605042
NM_005138.3(SCO2):c.763C>T (p.Arg255Trp)
NM_005138.3(SCO2):c.764G>T (p.Arg255Leu) rs368908383

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