ClinVar Miner

List of variants studied for Coffin-Lowry syndrome by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 167
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HGVS dbSNP gnomAD frequency
NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=) rs2230488 0.24795
NM_004586.3(RPS6KA3):c.113T>G (p.Ile38Ser) rs56218010 0.01619
NM_004586.3(RPS6KA3):c.1080G>A (p.Glu360=) rs114337467 0.00622
NM_004586.3(RPS6KA3):c.1989C>T (p.Asp663=) rs139718656 0.00549
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=) rs56338023 0.00336
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628 0.00133
NM_004586.3(RPS6KA3):c.139A>G (p.Ile47Val) rs140987045 0.00109
NM_004586.3(RPS6KA3):c.631+18G>A rs182515508 0.00104
NM_004586.3(RPS6KA3):c.1023T>C (p.His341=) rs150848826 0.00100
NM_004586.3(RPS6KA3):c.244-5T>C rs192189478 0.00083
NM_004586.3(RPS6KA3):c.1884A>T (p.Glu628Asp) rs150107747 0.00073
NM_004586.3(RPS6KA3):c.2073C>T (p.Asn691=) rs766164918 0.00017
NM_004586.3(RPS6KA3):c.1242C>T (p.Asn414=) rs142680221 0.00005
NM_004586.3(RPS6KA3):c.1246A>G (p.Ile416Val) rs148050184 0.00005
NM_004586.3(RPS6KA3):c.846-6A>G rs375177835 0.00004
NM_004586.3(RPS6KA3):c.1212A>G (p.Val404=) rs773807871 0.00003
NM_004586.3(RPS6KA3):c.987G>A (p.Thr329=) rs750203223 0.00003
NM_004586.3(RPS6KA3):c.1086T>C (p.Thr362=) rs778140223 0.00002
NM_004586.3(RPS6KA3):c.1362T>G (p.Asp454Glu) rs762253691 0.00002
NM_004586.3(RPS6KA3):c.1467G>A (p.Val489=) rs1277225078 0.00002
NM_004586.3(RPS6KA3):c.1960-3C>T rs1207197365 0.00001
NM_004586.3(RPS6KA3):c.20C>G (p.Ala7Gly) rs1365070717 0.00001
NM_004586.3(RPS6KA3):c.407-4T>G rs1040089025 0.00001
NM_004586.3(RPS6KA3):c.48G>C (p.Glu16Asp) rs1327104134 0.00001
NM_004586.3(RPS6KA3):c.631+9A>C rs747820943 0.00001
NC_000023.10:g.(?_17393881)_(20284750_?)dup
NC_000023.10:g.(?_20173516)_(20174387_?)del
NC_000023.10:g.(?_20173516)_(20195222_?)dup
NC_000023.10:g.(?_20173516)_(20252952_?)dup
NC_000023.10:g.(?_20204394)_(20206108_?)del
NC_000023.11:g.(?_20155378)_(20176518_?)dup
NM_004586.3(RPS6KA3):c.1000-10T>C
NM_004586.3(RPS6KA3):c.1000-10del rs748680802
NM_004586.3(RPS6KA3):c.1000-18T>C
NM_004586.3(RPS6KA3):c.1000-19dup rs748680802
NM_004586.3(RPS6KA3):c.1000-7C>T rs1555933444
NM_004586.3(RPS6KA3):c.1000-8C>T
NM_004586.3(RPS6KA3):c.1004T>C (p.Leu335Pro) rs2067699414
NM_004586.3(RPS6KA3):c.1026G>A (p.Pro342=)
NM_004586.3(RPS6KA3):c.1029A>G (p.Pro343=)
NM_004586.3(RPS6KA3):c.1038T>C (p.Pro346=)
NM_004586.3(RPS6KA3):c.1062A>G (p.Thr354=)
NM_004586.3(RPS6KA3):c.1103-10C>T
NM_004586.3(RPS6KA3):c.1151G>T (p.Gly384Val) rs2067670297
NM_004586.3(RPS6KA3):c.1219A>G (p.Ile407Val)
NM_004586.3(RPS6KA3):c.1227+14T>C
NM_004586.3(RPS6KA3):c.1227+18T>C
NM_004586.3(RPS6KA3):c.1227+7G>A
NM_004586.3(RPS6KA3):c.1248T>G (p.Ile416Met)
NM_004586.3(RPS6KA3):c.124A>G (p.Thr42Ala)
NM_004586.3(RPS6KA3):c.126+13T>C
NM_004586.3(RPS6KA3):c.126+19C>T
NM_004586.3(RPS6KA3):c.1269A>T (p.Glu423Asp) rs2067605278
NM_004586.3(RPS6KA3):c.127-19C>G
NM_004586.3(RPS6KA3):c.1291G>T (p.Gly431Cys)
NM_004586.3(RPS6KA3):c.1296C>T (p.Ser432=)
NM_004586.3(RPS6KA3):c.1336A>G (p.Met446Val)
NM_004586.3(RPS6KA3):c.1353+13dup rs766402947
NM_004586.3(RPS6KA3):c.1353+5A>T
NM_004586.3(RPS6KA3):c.1353+6T>A
NM_004586.3(RPS6KA3):c.1354-15A>G
NM_004586.3(RPS6KA3):c.1354-17A>C
NM_004586.3(RPS6KA3):c.1377C>T (p.Asp459=)
NM_004586.3(RPS6KA3):c.1402C>G (p.Leu468Val)
NM_004586.3(RPS6KA3):c.1413A>G (p.Gly471=)
NM_004586.3(RPS6KA3):c.1422A>G (p.Pro474=)
NM_004586.3(RPS6KA3):c.1446A>C (p.Val482=)
NM_004586.3(RPS6KA3):c.1483C>A (p.Leu495Ile)
NM_004586.3(RPS6KA3):c.1566_1567insTG (p.Ile523Ter)
NM_004586.3(RPS6KA3):c.1593C>T (p.His531=)
NM_004586.3(RPS6KA3):c.1602+13A>C
NM_004586.3(RPS6KA3):c.1602+17C>T
NM_004586.3(RPS6KA3):c.1602+2del rs2148649846
NM_004586.3(RPS6KA3):c.1602+2dup
NM_004586.3(RPS6KA3):c.1603-19T>G
NM_004586.3(RPS6KA3):c.1603-5A>G rs1569194162
NM_004586.3(RPS6KA3):c.1662G>A (p.Pro554=)
NM_004586.3(RPS6KA3):c.1710G>A (p.Ala570=)
NM_004586.3(RPS6KA3):c.1762G>A (p.Glu588Lys)
NM_004586.3(RPS6KA3):c.1765-2A>C rs2067343280
NM_004586.3(RPS6KA3):c.17T>C (p.Leu6Pro) rs1429116502
NM_004586.3(RPS6KA3):c.1814G>A (p.Gly605Asp)
NM_004586.3(RPS6KA3):c.1842-20T>C
NM_004586.3(RPS6KA3):c.1842-7A>G
NM_004586.3(RPS6KA3):c.1845del (p.Gly614_Tyr615insTer) rs1569190602
NM_004586.3(RPS6KA3):c.1851A>G (p.Pro617=)
NM_004586.3(RPS6KA3):c.1858A>G (p.Asn620Asp) rs2148635858
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter) rs1085307639
NM_004586.3(RPS6KA3):c.1920C>T (p.Leu640=)
NM_004586.3(RPS6KA3):c.1952C>T (p.Thr651Ile)
NM_004586.3(RPS6KA3):c.1959+17A>C
NM_004586.3(RPS6KA3):c.1960-16A>T
NM_004586.3(RPS6KA3):c.1996C>T (p.Gln666Ter) rs1603417440
NM_004586.3(RPS6KA3):c.2000G>A (p.Arg667Lys)
NM_004586.3(RPS6KA3):c.2005_2008del (p.Thr669fs)
NM_004586.3(RPS6KA3):c.2022C>T (p.Leu674=)
NM_004586.3(RPS6KA3):c.2037C>T (p.Ile679=)
NM_004586.3(RPS6KA3):c.2093dup (p.Val699fs)
NM_004586.3(RPS6KA3):c.2095G>A (p.Val699Ile)
NM_004586.3(RPS6KA3):c.2100+15A>G
NM_004586.3(RPS6KA3):c.2100+5G>A
NM_004586.3(RPS6KA3):c.2101-19C>A
NM_004586.3(RPS6KA3):c.2118A>G (p.Thr706=)
NM_004586.3(RPS6KA3):c.2142G>A (p.Gln714=)
NM_004586.3(RPS6KA3):c.2142_2145dup (p.Pro716fs) rs2148622591
NM_004586.3(RPS6KA3):c.2205C>T (p.Ile735=)
NM_004586.3(RPS6KA3):c.225G>T (p.Gly75=) rs1555950495
NM_004586.3(RPS6KA3):c.243+19C>T
NM_004586.3(RPS6KA3):c.243+6T>G
NM_004586.3(RPS6KA3):c.244-17C>T
NM_004586.3(RPS6KA3):c.244-20T>C
NM_004586.3(RPS6KA3):c.244-4G>T
NM_004586.3(RPS6KA3):c.244-7A>C
NM_004586.3(RPS6KA3):c.251del (p.Phe83_Leu84insTer) rs2148721944
NM_004586.3(RPS6KA3):c.295A>G (p.Met99Val) rs1569232184
NM_004586.3(RPS6KA3):c.300G>T (p.Lys100Asn)
NM_004586.3(RPS6KA3):c.304T>C (p.Leu102=)
NM_004586.3(RPS6KA3):c.318A>G (p.Thr106=)
NM_004586.3(RPS6KA3):c.325+16A>G
NM_004586.3(RPS6KA3):c.325+6T>A
NM_004586.3(RPS6KA3):c.326-20A>C
NM_004586.3(RPS6KA3):c.341G>A (p.Arg114Gln)
NM_004586.3(RPS6KA3):c.387T>C (p.Phe129=)
NM_004586.3(RPS6KA3):c.406+11G>A rs2148703536
NM_004586.3(RPS6KA3):c.406+12C>A
NM_004586.3(RPS6KA3):c.406+13C>T
NM_004586.3(RPS6KA3):c.406+14G>A
NM_004586.3(RPS6KA3):c.426G>A (p.Lys142=)
NM_004586.3(RPS6KA3):c.486+20T>G
NM_004586.3(RPS6KA3):c.51C>T (p.Ser17=)
NM_004586.3(RPS6KA3):c.593+16A>G
NM_004586.3(RPS6KA3):c.593+2_593+5del rs1555942692
NM_004586.3(RPS6KA3):c.593+7A>C
NM_004586.3(RPS6KA3):c.594-10dup rs755566588
NM_004586.3(RPS6KA3):c.594-18T>C
NM_004586.3(RPS6KA3):c.618C>T (p.His206=)
NM_004586.3(RPS6KA3):c.62G>T (p.Ser21Ile) rs996264009
NM_004586.3(RPS6KA3):c.631+12del
NM_004586.3(RPS6KA3):c.631+12dup rs751517771
NM_004586.3(RPS6KA3):c.631+17C>T
NM_004586.3(RPS6KA3):c.642A>G (p.Leu214=)
NM_004586.3(RPS6KA3):c.70-15C>T
NM_004586.3(RPS6KA3):c.70-19C>A
NM_004586.3(RPS6KA3):c.70-20G>A
NM_004586.3(RPS6KA3):c.707C>T (p.Ala236Val) rs1569216043
NM_004586.3(RPS6KA3):c.709C>T (p.Pro237Ser)
NM_004586.3(RPS6KA3):c.727C>T (p.Arg243Ter) rs1603425345
NM_004586.3(RPS6KA3):c.740dup (p.Ser248fs) rs2148686409
NM_004586.3(RPS6KA3):c.754T>C (p.Trp252Arg) rs1569215936
NM_004586.3(RPS6KA3):c.765T>A (p.Gly255=)
NM_004586.3(RPS6KA3):c.770_773del (p.Leu257fs) rs2148686334
NM_004586.3(RPS6KA3):c.771A>G (p.Leu257=)
NM_004586.3(RPS6KA3):c.772A>G (p.Met258Val) rs2148686350
NM_004586.3(RPS6KA3):c.775-17A>G
NM_004586.3(RPS6KA3):c.83T>C (p.Ile28Thr)
NM_004586.3(RPS6KA3):c.840_845+3del
NM_004586.3(RPS6KA3):c.845+10C>T
NM_004586.3(RPS6KA3):c.845+5G>A
NM_004586.3(RPS6KA3):c.846-13A>G
NM_004586.3(RPS6KA3):c.846A>C (p.Lys282Asn)
NM_004586.3(RPS6KA3):c.877C>G (p.Pro293Ala)
NM_004586.3(RPS6KA3):c.885G>A (p.Ala295=)
NM_004586.3(RPS6KA3):c.898C>T (p.Arg300Ter) rs1603422409
NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter)
NM_004586.3(RPS6KA3):c.934+14_934+17del
NM_004586.3(RPS6KA3):c.955G>T (p.Glu319Ter)
NM_004586.3(RPS6KA3):c.999+2dup rs2067702056

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