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

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Total variants: 9

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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.1022C>T (p.Ala341Val)	rs587777091
NM_052844.4(DYNC2I2):c.1307A>G (p.Lys436Arg)	rs587777098
NM_052844.4(DYNC2I2):c.1340G>A (p.Arg447Gln)	rs587777094
NM_052844.4(DYNC2I2):c.1541_1542del (p.Thr514fs)	rs431905519
NM_052844.4(DYNC2I2):c.982-2A>C	rs587777095

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