ClinVar Miner

List of variants in gene combination LOC130009366, SACS reported by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.171+6C>T rs3751368 0.13186
NM_014363.6(SACS):c.171+13C>T rs374672041 0.00347
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528 0.00016
NM_014363.6(SACS):c.110G>A (p.Arg37His) rs866539724 0.00006
NM_014363.6(SACS):c.51C>T (p.Cys17=) rs763979020 0.00005
NM_014363.6(SACS):c.134C>T (p.Pro45Leu) rs1033188876 0.00004
NM_014363.6(SACS):c.135G>C (p.Pro45=) rs532332781 0.00004
NM_014363.6(SACS):c.21-13C>T rs1036720942 0.00004
NM_014363.6(SACS):c.28C>T (p.Pro10Ser) rs774325388 0.00004
NM_014363.6(SACS):c.125C>T (p.Thr42Ile) rs957645610 0.00003
NM_014363.6(SACS):c.147G>A (p.Gln49=) rs747237629 0.00003
NM_014363.6(SACS):c.151C>T (p.Leu51=) rs979224977 0.00003
NM_014363.6(SACS):c.159C>G (p.Arg53=) rs968138431 0.00003
NM_014363.6(SACS):c.93G>T (p.Val31=) rs1235785042 0.00003
NM_014363.6(SACS):c.107A>G (p.Glu36Gly) rs1272196981 0.00001
NM_014363.6(SACS):c.114C>T (p.Ile38=) rs1261687825 0.00001
NM_014363.6(SACS):c.117C>T (p.Phe39=) rs1274730877 0.00001
NM_014363.6(SACS):c.141G>A (p.Ser47=) rs1593160882 0.00001
NM_014363.6(SACS):c.171+14G>A rs749647603 0.00001
NM_014363.6(SACS):c.21-15C>T rs1475664630 0.00001
NM_014363.6(SACS):c.21-16C>T rs755781227 0.00001
NM_014363.6(SACS):c.21-17C>T rs766045899 0.00001
NM_014363.6(SACS):c.21-5C>T rs565378672 0.00001
NM_014363.6(SACS):c.27C>G (p.Val9=) rs912218064 0.00001
NM_014363.6(SACS):c.29C>T (p.Pro10Leu) rs1215104195 0.00001
NM_014363.6(SACS):c.47G>T (p.Gly16Val) rs886050090 0.00001
NM_014363.6(SACS):c.60C>T (p.Cys20=) rs932552006 0.00001
NM_014363.6(SACS):c.66C>T (p.Thr22=) rs1394091047 0.00001
NM_014363.6(SACS):c.81G>A (p.Ala27=) rs547655776 0.00001
NM_014363.6(SACS):c.83C>T (p.Ser28Phe) rs1365453773 0.00001
NM_014363.6(SACS):c.84C>T (p.Ser28=) rs1871675891 0.00001
NM_014363.6(SACS):c.96C>T (p.Arg32=) rs1194980400 0.00001
NM_014363.6(SACS):c.105G>A (p.Lys35=) rs1871673007
NM_014363.6(SACS):c.108A>G (p.Glu36=) rs2137840633
NM_014363.6(SACS):c.120G>C (p.Ala40=) rs2542502887
NM_014363.6(SACS):c.124A>G (p.Thr42Ala) rs1238874773
NM_014363.6(SACS):c.135G>A (p.Pro45=) rs532332781
NM_014363.6(SACS):c.137T>G (p.Val46Gly) rs1593160887
NM_014363.6(SACS):c.153G>C (p.Leu51=) rs2137840209
NM_014363.6(SACS):c.159C>T (p.Arg53=) rs968138431
NM_014363.6(SACS):c.165C>G (p.Gly55=) rs1871664713
NM_014363.6(SACS):c.171+12C>A rs779440829
NM_014363.6(SACS):c.171+13C>G rs374672041
NM_014363.6(SACS):c.171+15G>C rs1347173570
NM_014363.6(SACS):c.171+18G>T rs2542501372
NM_014363.6(SACS):c.171+1_171+18del rs2542501436
NM_014363.6(SACS):c.171+7G>A rs2542501616
NM_014363.6(SACS):c.171+9dup rs2542501604
NM_014363.6(SACS):c.21-10C>G rs1186179760
NM_014363.6(SACS):c.21-10C>T rs1186179760
NM_014363.6(SACS):c.21-11G>A rs535843172
NM_014363.6(SACS):c.21-11G>C rs535843172
NM_014363.6(SACS):c.21-15CT[4] rs2542506104
NM_014363.6(SACS):c.21-18T>C rs2137841801
NM_014363.6(SACS):c.21-2A>G rs2542505809
NM_014363.6(SACS):c.21-6C>A rs767048737
NM_014363.6(SACS):c.21-6C>T rs767048737
NM_014363.6(SACS):c.21-8T>C rs1871685627
NM_014363.6(SACS):c.23G>A (p.Trp8Ter) rs1871684539
NM_014363.6(SACS):c.24G>A (p.Trp8Ter) rs2542505703
NM_014363.6(SACS):c.29del (p.Pro10fs) rs1057516837
NM_014363.6(SACS):c.36C>G (p.Thr12=) rs2542505366
NM_014363.6(SACS):c.39G>C (p.Val13=) rs2542505265
NM_014363.6(SACS):c.42C>G (p.Leu14=) rs2137841455
NM_014363.6(SACS):c.42C>T (p.Leu14=) rs2137841455
NM_014363.6(SACS):c.44_45del (p.Pro15fs) rs2542505067
NM_014363.6(SACS):c.45C>G (p.Pro15=) rs1231894975
NM_014363.6(SACS):c.45C>T (p.Pro15=) rs1231894975
NM_014363.6(SACS):c.53dup (p.Cys20fs) rs2542504851
NM_014363.6(SACS):c.54G>C (p.Val18=) rs1390875446
NM_014363.6(SACS):c.55G>A (p.Gly19Ser) rs1871680324
NM_014363.6(SACS):c.57C>G (p.Gly19=) rs1394349795
NM_014363.6(SACS):c.57C>T (p.Gly19=) rs1394349795
NM_014363.6(SACS):c.72G>A (p.Ala24=) rs1871677310
NM_014363.6(SACS):c.76C>T (p.Leu26=) rs2137841018
NM_014363.6(SACS):c.84C>G (p.Ser28=) rs1871675891
NM_014363.6(SACS):c.96_105dup (p.Glu36fs) rs1871673221

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