ClinVar Miner

List of variants reported as benign for Coffin-Lowry syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 51
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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.48G>C (p.Glu16Asp) rs1327104134 0.00001
NM_004586.3(RPS6KA3):c.1000-10del rs748680802
NM_004586.3(RPS6KA3):c.1000-19dup rs748680802
NM_004586.3(RPS6KA3):c.1026G>A (p.Pro342=)
NM_004586.3(RPS6KA3):c.1029A>G (p.Pro343=)
NM_004586.3(RPS6KA3):c.1103-10C>T
NM_004586.3(RPS6KA3):c.1219A>G (p.Ile407Val)
NM_004586.3(RPS6KA3):c.1248T>G (p.Ile416Met)
NM_004586.3(RPS6KA3):c.126+13T>C
NM_004586.3(RPS6KA3):c.1296C>T (p.Ser432=)
NM_004586.3(RPS6KA3):c.1353+13dup rs766402947
NM_004586.3(RPS6KA3):c.1353+5A>T
NM_004586.3(RPS6KA3):c.1446A>C (p.Val482=)
NM_004586.3(RPS6KA3):c.1483C>A (p.Leu495Ile)
NM_004586.3(RPS6KA3):c.1593C>T (p.His531=)
NM_004586.3(RPS6KA3):c.1662G>A (p.Pro554=)
NM_004586.3(RPS6KA3):c.1710G>A (p.Ala570=)
NM_004586.3(RPS6KA3):c.1842-7A>G
NM_004586.3(RPS6KA3):c.2022C>T (p.Leu674=)
NM_004586.3(RPS6KA3):c.2142G>A (p.Gln714=)
NM_004586.3(RPS6KA3):c.304T>C (p.Leu102=)
NM_004586.3(RPS6KA3):c.406+12C>A
NM_004586.3(RPS6KA3):c.406+13C>T
NM_004586.3(RPS6KA3):c.426G>A (p.Lys142=)
NM_004586.3(RPS6KA3):c.593+16A>G
NM_004586.3(RPS6KA3):c.594-10dup rs755566588
NM_004586.3(RPS6KA3):c.618C>T (p.His206=)
NM_004586.3(RPS6KA3):c.631+12del
NM_004586.3(RPS6KA3):c.631+12dup rs751517771
NM_004586.3(RPS6KA3):c.642A>G (p.Leu214=)
NM_004586.3(RPS6KA3):c.70-20G>A
NM_004586.3(RPS6KA3):c.845+10C>T
NM_004586.3(RPS6KA3):c.885G>A (p.Ala295=)

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