ClinVar Miner

List of variants reported as pathogenic for Short-rib thoracic dysplasia 11 with or without polydactyly

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_052844.4(DYNC2I2):c.1339C>T (p.Arg447Trp) rs587777093 0.00004
NM_052844.4(DYNC2I2):c.472C>T (p.Gln158Ter) rs587777097 0.00002
NM_052844.4(DYNC2I2):c.1061C>T (p.Thr354Met) rs587777092 0.00001
NM_052844.4(DYNC2I2):c.1177G>A (p.Gly393Ser) rs587777096 0.00001
NM_052844.4(DYNC2I2):c.1480C>T (p.Gln494Ter) rs751323441 0.00001
NC_000009.12:g.(?_128632127)_(128640939_?)del
NM_052844.4(DYNC2I2):c.1022C>T (p.Ala341Val) rs587777091
NM_052844.4(DYNC2I2):c.1103_1104del (p.Glu368fs) rs759150616
NM_052844.4(DYNC2I2):c.1117_1118del (p.Arg373fs)
NM_052844.4(DYNC2I2):c.1171dup (p.His391fs)
NM_052844.4(DYNC2I2):c.1198_1201dup (p.Ser401fs) rs1860335967
NM_052844.4(DYNC2I2):c.1294C>T (p.Gln432Ter)
NM_052844.4(DYNC2I2):c.1307A>G (p.Lys436Arg) rs587777098
NM_052844.4(DYNC2I2):c.1312_1313del (p.Leu438fs) rs753802842
NM_052844.4(DYNC2I2):c.1313dup (p.Phe439fs)
NM_052844.4(DYNC2I2):c.1315_1318del (p.Phe439fs) rs760226714
NM_052844.4(DYNC2I2):c.1315_1318dup (p.Ala440fs)
NM_052844.4(DYNC2I2):c.1340G>A (p.Arg447Gln) rs587777094
NM_052844.4(DYNC2I2):c.1372+1G>A
NM_052844.4(DYNC2I2):c.1461_1464dup (p.Glu489fs)
NM_052844.4(DYNC2I2):c.1509_1515del (p.Gln504_Gly505insTer)
NM_052844.4(DYNC2I2):c.1531C>T (p.Gln511Ter)
NM_052844.4(DYNC2I2):c.1541_1542del (p.Thr514fs) rs431905519
NM_052844.4(DYNC2I2):c.245_246del (p.His82fs)
NM_052844.4(DYNC2I2):c.256del (p.Gln86fs)
NM_052844.4(DYNC2I2):c.26del (p.Pro9fs) rs763975565
NM_052844.4(DYNC2I2):c.347_348del (p.Glu116fs) rs2132155831
NM_052844.4(DYNC2I2):c.361C>T (p.Arg121Ter) rs371188707
NM_052844.4(DYNC2I2):c.447_448del (p.Thr151fs)
NM_052844.4(DYNC2I2):c.51_64dup (p.Ala22fs)
NM_052844.4(DYNC2I2):c.629del (p.Pro210fs) rs2132146546
NM_052844.4(DYNC2I2):c.955del (p.Leu319fs)
NM_052844.4(DYNC2I2):c.982-2A>C rs587777095

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