ClinVar Miner

List of variants reported as pathogenic for Coffin-Lowry syndrome by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
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Total variants: 19
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HGVS dbSNP
NM_004586.3(RPS6KA3):c.1428_1430del (p.Ile477del)
NM_004586.3(RPS6KA3):c.2065C>T (p.Gln689Ter) rs122454128
NM_004586.3(RPS6KA3):c.2144del (p.Ser715fs)
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln) rs28935171
NM_004586.3(RPS6KA3):c.224G>T (p.Gly75Val) rs122454124
NM_004586.3(RPS6KA3):c.244G>T (p.Val82Phe) rs122454126
NM_004586.3(RPS6KA3):c.326-1G>C rs587776755
NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp) rs122454127
NM_004586.3(RPS6KA3):c.451_452del (p.Arg151fs)
NM_004586.3(RPS6KA3):c.486+3A>G
NM_004586.3(RPS6KA3):c.566T>A (p.Ile189Lys) rs122454130
NM_004586.3(RPS6KA3):c.679T>G (p.Ser227Ala) rs122454125
NM_004586.3(RPS6KA3):c.803T>C (p.Phe268Ser) rs122454131
RPS6KA3, 187-BP DEL, NT406
RPS6KA3, 7.2-KB DEL
RPS6KA3, DUP EXONS 17-20, NT1959
RPS6KA3, IVS12, A-G, -2
RPS6KA3, IVS3, L1 INS, -8
RPS6KA3, IVS5, A-G, -11

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