ClinVar Miner

List of variants reported as likely benign for Hereditary spastic paraplegia 50

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ClinVar version:
Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_004722.4(AP4M1):c.228C>T (p.Pro76=) rs41280965 0.00663
NM_004722.4(AP4M1):c.1002C>T (p.Leu334=) rs140843407 0.00656
NM_004722.4(AP4M1):c.59-14C>G rs202164434 0.00086
NM_004722.4(AP4M1):c.740G>C (p.Gly247Ala) rs145887263 0.00075
NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp) rs138437966 0.00066
NM_004722.4(AP4M1):c.930G>A (p.Arg310=) rs141754568 0.00053
NM_004722.4(AP4M1):c.544-6T>G rs372511561 0.00046
NM_004722.4(AP4M1):c.777G>A (p.Val259=) rs144253083 0.00041
NM_004722.4(AP4M1):c.561T>G (p.Val187=) rs775529957 0.00026
NM_004722.4(AP4M1):c.1342G>A (p.Ala448Thr) rs147738731 0.00023
NM_004722.4(AP4M1):c.295G>A (p.Glu99Lys) rs200347699 0.00020
NM_004722.4(AP4M1):c.1245G>A (p.Thr415=) rs142429364 0.00016
NM_004722.4(AP4M1):c.630G>A (p.Val210=) rs537780447 0.00014
NM_004722.4(AP4M1):c.975-14C>T rs370610939 0.00014
NM_004722.4(AP4M1):c.1128C>T (p.Gly376=) rs372787797 0.00009
NM_004722.4(AP4M1):c.1293C>T (p.Cys431=) rs151301464 0.00009
NM_004722.4(AP4M1):c.1341C>T (p.Asp447=) rs551239733 0.00008
NM_004722.4(AP4M1):c.243A>G (p.Glu81=) rs200156998 0.00008
NM_004722.4(AP4M1):c.771C>T (p.Ser257=) rs545459309 0.00008
NM_004722.4(AP4M1):c.1137+7G>A rs759354272 0.00006
NM_004722.4(AP4M1):c.84T>C (p.Asp28=) rs777732581 0.00006
NM_004722.4(AP4M1):c.1140G>A (p.Met380Ile) rs574878636 0.00005
NM_004722.4(AP4M1):c.93G>A (p.Glu31=) rs202143875 0.00005
NM_004722.4(AP4M1):c.289C>T (p.Leu97=) rs376025594 0.00004
NM_004722.4(AP4M1):c.786C>T (p.Asp262=) rs750687666 0.00004
NM_004722.4(AP4M1):c.981C>T (p.Ala327=) rs563402705 0.00004
NM_004722.4(AP4M1):c.12A>G (p.Gln4=) rs568292146 0.00003
NM_004722.4(AP4M1):c.351+9C>G rs745857202 0.00003
NM_004722.4(AP4M1):c.453C>T (p.Ser151=) rs1388187930 0.00003
NM_004722.4(AP4M1):c.607-12C>T rs1375819668 0.00003
NM_004722.4(AP4M1):c.1026-20C>G rs371922404 0.00002
NM_004722.4(AP4M1):c.1257C>T (p.Leu419=) rs772168477 0.00002
NM_004722.4(AP4M1):c.390G>A (p.Leu130=) rs753736268 0.00002
NM_004722.4(AP4M1):c.408G>A (p.Thr136=) rs1267130075 0.00002
NM_004722.4(AP4M1):c.693G>A (p.Thr231=) rs758378130 0.00002
NM_004722.4(AP4M1):c.750C>T (p.Val250=) rs752745814 0.00002
NM_004722.4(AP4M1):c.953G>A (p.Arg318Gln) rs531148057 0.00002
NM_004722.4(AP4M1):c.1025+19C>G rs756183556 0.00001
NM_004722.4(AP4M1):c.1074G>A (p.Glu358=) rs529291627 0.00001
NM_004722.4(AP4M1):c.1137+10G>C rs776964578 0.00001
NM_004722.4(AP4M1):c.189C>T (p.Gly63=) rs367614875 0.00001
NM_004722.4(AP4M1):c.273C>T (p.Gly91=) rs778849366 0.00001
NM_004722.4(AP4M1):c.351+18C>T rs748478430 0.00001
NM_004722.4(AP4M1):c.352-12C>T rs1312514170 0.00001
NM_004722.4(AP4M1):c.543+11G>C rs200561621 0.00001
NM_004722.4(AP4M1):c.543+11_543+14dup rs764092006 0.00001
NM_004722.4(AP4M1):c.606+20C>T rs1796284845 0.00001
NM_004722.4(AP4M1):c.674-5G>A rs576875998 0.00001
NM_004722.4(AP4M1):c.753T>C (p.Asp251=) rs962896326 0.00001
NM_004722.4(AP4M1):c.867C>T (p.Asp289=) rs756660680 0.00001
NM_004722.4(AP4M1):c.90C>G (p.Ala30=) rs1418445713 0.00001
NM_004722.4(AP4M1):c.974+16G>A rs777424471 0.00001
NM_004722.4(AP4M1):c.1002C>G (p.Leu334=) rs140843407
NM_004722.4(AP4M1):c.1025+18C>G
NM_004722.4(AP4M1):c.1025+20A>G
NM_004722.4(AP4M1):c.1026-10C>G rs746394766
NM_004722.4(AP4M1):c.1047C>T (p.Ser349=)
NM_004722.4(AP4M1):c.1137+16C>T rs1035762525
NM_004722.4(AP4M1):c.1138-15C>T
NM_004722.4(AP4M1):c.1138-17G>T
NM_004722.4(AP4M1):c.1138-8C>G rs773499417
NM_004722.4(AP4M1):c.1143C>T (p.Asp381=)
NM_004722.4(AP4M1):c.1167C>T (p.Pro389=)
NM_004722.4(AP4M1):c.1188G>A (p.Ser396=)
NM_004722.4(AP4M1):c.1203G>A (p.Gly401=)
NM_004722.4(AP4M1):c.1227C>T (p.Phe409=)
NM_004722.4(AP4M1):c.1238G>T (p.Arg413Leu) rs757999633
NM_004722.4(AP4M1):c.1287G>A (p.Arg429=)
NM_004722.4(AP4M1):c.1308C>T (p.Pro436=)
NM_004722.4(AP4M1):c.1338C>T (p.Ser446=)
NM_004722.4(AP4M1):c.1350C>T (p.Val450=)
NM_004722.4(AP4M1):c.147+10G>A rs1584505112
NM_004722.4(AP4M1):c.147+12C>T
NM_004722.4(AP4M1):c.147+16_147+22dup
NM_004722.4(AP4M1):c.147+18dup
NM_004722.4(AP4M1):c.148-10T>C
NM_004722.4(AP4M1):c.148-11C>T
NM_004722.4(AP4M1):c.148-18T>C
NM_004722.4(AP4M1):c.192C>G (p.Leu64=)
NM_004722.4(AP4M1):c.196T>C (p.Leu66=)
NM_004722.4(AP4M1):c.219C>T (p.Asn73=)
NM_004722.4(AP4M1):c.238C>T (p.Leu80=)
NM_004722.4(AP4M1):c.254+14G>A
NM_004722.4(AP4M1):c.254+15del
NM_004722.4(AP4M1):c.254+17T>C
NM_004722.4(AP4M1):c.254+20G>A
NM_004722.4(AP4M1):c.255-10G>A
NM_004722.4(AP4M1):c.255-12G>A
NM_004722.4(AP4M1):c.255-12G>C
NM_004722.4(AP4M1):c.294C>T (p.Gly98=)
NM_004722.4(AP4M1):c.30C>T (p.Ser10=) rs539589967
NM_004722.4(AP4M1):c.336C>T (p.Leu112=)
NM_004722.4(AP4M1):c.351+17C>T
NM_004722.4(AP4M1):c.351+19C>T
NM_004722.4(AP4M1):c.352-18_352-17dup
NM_004722.4(AP4M1):c.360C>T (p.Gly120=) rs778147767
NM_004722.4(AP4M1):c.381G>A (p.Thr127=)
NM_004722.4(AP4M1):c.393G>A (p.Arg131=)
NM_004722.4(AP4M1):c.45C>G (p.Leu15=)
NM_004722.4(AP4M1):c.45C>T (p.Leu15=)
NM_004722.4(AP4M1):c.462+15A>G
NM_004722.4(AP4M1):c.462+20_462+22del
NM_004722.4(AP4M1):c.463-15T>C
NM_004722.4(AP4M1):c.471T>C (p.Ala157=)
NM_004722.4(AP4M1):c.519C>T (p.Pro173=) rs551112932
NM_004722.4(AP4M1):c.528C>T (p.Ser176=)
NM_004722.4(AP4M1):c.544-11C>T
NM_004722.4(AP4M1):c.544-13C>T rs2116643223
NM_004722.4(AP4M1):c.544-16TC[3] rs751511522
NM_004722.4(AP4M1):c.544-7_544-6del
NM_004722.4(AP4M1):c.576C>G (p.Val192=)
NM_004722.4(AP4M1):c.576C>T (p.Val192=) rs776742429
NM_004722.4(AP4M1):c.58+14T>C
NM_004722.4(AP4M1):c.585G>A (p.Leu195=)
NM_004722.4(AP4M1):c.59-11C>T rs774846906
NM_004722.4(AP4M1):c.59-14C>T
NM_004722.4(AP4M1):c.59-16T>C
NM_004722.4(AP4M1):c.59-17G>A
NM_004722.4(AP4M1):c.591A>G (p.Val197=)
NM_004722.4(AP4M1):c.600A>G (p.Ala200=)
NM_004722.4(AP4M1):c.606+18A>C
NM_004722.4(AP4M1):c.607-13C>T
NM_004722.4(AP4M1):c.607-5C>T
NM_004722.4(AP4M1):c.616C>T (p.Leu206=)
NM_004722.4(AP4M1):c.666C>T (p.Ser222=)
NM_004722.4(AP4M1):c.673+11T>C
NM_004722.4(AP4M1):c.673+18A>G
NM_004722.4(AP4M1):c.674-19A>T rs1010643109
NM_004722.4(AP4M1):c.674-19_674-17del
NM_004722.4(AP4M1):c.674-6C>T
NM_004722.4(AP4M1):c.674-8_674-6del rs2116650324
NM_004722.4(AP4M1):c.728-12C>T
NM_004722.4(AP4M1):c.728-17T>C
NM_004722.4(AP4M1):c.728-21TC[6]
NM_004722.4(AP4M1):c.728-8C>T
NM_004722.4(AP4M1):c.729T>G (p.Gly243=)
NM_004722.4(AP4M1):c.741A>C (p.Gly247=) rs1051745199
NM_004722.4(AP4M1):c.750C>A (p.Val250=)
NM_004722.4(AP4M1):c.807C>T (p.Ile269=) rs755494077
NM_004722.4(AP4M1):c.819A>G (p.Gln273=)
NM_004722.4(AP4M1):c.834+8T>C
NM_004722.4(AP4M1):c.840T>G (p.Thr280=)
NM_004722.4(AP4M1):c.843G>A (p.Val281=)
NM_004722.4(AP4M1):c.864T>C (p.Asp288=)
NM_004722.4(AP4M1):c.891G>C (p.Arg297=)
NM_004722.4(AP4M1):c.929+10T>C rs758175403
NM_004722.4(AP4M1):c.930-11C>T
NM_004722.4(AP4M1):c.930-4C>G
NM_004722.4(AP4M1):c.930-6A>C
NM_004722.4(AP4M1):c.961C>T (p.Leu321=)
NM_004722.4(AP4M1):c.975-13G>A
NM_004722.4(AP4M1):c.975-13G>T rs778720143
NM_004722.4(AP4M1):c.975-15C>T
NM_004722.4(AP4M1):c.975-16C>T
NM_004722.4(AP4M1):c.975-8C>T
NM_004722.4(AP4M1):c.975-9C>T
NM_004722.4(AP4M1):c.984C>A (p.Leu328=)
NM_004722.4(AP4M1):c.984C>G (p.Leu328=)
NM_004722.4(AP4M1):c.990C>G (p.Val330=) rs371813095
NM_004722.4(AP4M1):c.990C>T (p.Val330=)
NM_004722.4(AP4M1):c.9C>A (p.Ser3=)

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