List of variants in gene DYNC2I2 reported as pathogenic for bone disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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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.1397A>C (p.Gln466Pro)	rs1554770620	0.00001
NM_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp)	rs555811074	0.00001
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.1567_1582del (p.Glu523fs)	rs1554770453
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

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