ClinVar Miner

List of variants reported as pathogenic for Short-rib thoracic dysplasia 11 with or without polydactyly by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_052844.4(DYNC2I2):c.361C>T (p.Arg121Ter) rs371188707 0.00005
NM_052844.4(DYNC2I2):c.1339C>T (p.Arg447Trp) rs587777093 0.00003
NM_052844.4(DYNC2I2):c.1372+1G>A rs371069043 0.00003
NM_052844.4(DYNC2I2):c.472C>T (p.Gln158Ter) rs587777097 0.00002
NM_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp) rs555811074 0.00002
NM_052844.4(DYNC2I2):c.1177G>A (p.Gly393Ser) rs587777096 0.00001
NM_052844.4(DYNC2I2):c.1198_1201dup (p.Ser401fs) rs1860335967 0.00001
NM_052844.4(DYNC2I2):c.1313dup (p.Phe439fs) rs754862975 0.00001
NM_052844.4(DYNC2I2):c.245_246del (p.His82fs) rs1860503169 0.00001
NC_000009.12:g.(?_128632127)_(128640939_?)del
NM_052844.4(DYNC2I2):c.1103_1104del (p.Glu368fs) rs759150616
NM_052844.4(DYNC2I2):c.1117_1118del (p.Arg373fs) rs2542431260
NM_052844.4(DYNC2I2):c.1171dup (p.His391fs) rs1860338648
NM_052844.4(DYNC2I2):c.1284_1305dup (p.Lys436fs)
NM_052844.4(DYNC2I2):c.1294C>T (p.Gln432Ter) rs1860313722
NM_052844.4(DYNC2I2):c.1312_1313del (p.Leu438fs) rs753802842
NM_052844.4(DYNC2I2):c.1315_1318del (p.Phe439fs) rs760226714
NM_052844.4(DYNC2I2):c.1315_1318dup (p.Ala440fs) rs760226714
NM_052844.4(DYNC2I2):c.1340G>A (p.Arg447Gln) rs587777094
NM_052844.4(DYNC2I2):c.1461_1464dup (p.Glu489fs) rs2542422836
NM_052844.4(DYNC2I2):c.1480C>T (p.Gln494Ter) rs751323441
NM_052844.4(DYNC2I2):c.1509_1515del (p.Gln504_Gly505insTer) rs2542422187
NM_052844.4(DYNC2I2):c.1531C>T (p.Gln511Ter) rs1376492472
NM_052844.4(DYNC2I2):c.256del (p.Gln86fs) rs770506724
NM_052844.4(DYNC2I2):c.26del (p.Pro9fs) rs763975565
NM_052844.4(DYNC2I2):c.33_36del (p.Ser11fs)
NM_052844.4(DYNC2I2):c.347_348del (p.Glu116fs) rs2132155831
NM_052844.4(DYNC2I2):c.447_448del (p.Thr151fs) rs1860428100
NM_052844.4(DYNC2I2):c.51_64dup (p.Ala22fs) rs2542474503
NM_052844.4(DYNC2I2):c.629del (p.Pro210fs) rs2132146546
NM_052844.4(DYNC2I2):c.93_108del (p.Pro32fs)
NM_052844.4(DYNC2I2):c.955del (p.Leu319fs) rs2542433072

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