List of variants reported as pathogenic for Temtamy preaxial brachydactyly syndrome by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_014918.5(CHSY1):c.14del (p.Gly5fs)	rs1567112402
NM_014918.5(CHSY1):c.1616C>G (p.Pro539Arg)	rs387906985
NM_014918.5(CHSY1):c.205C>T (p.Gln69Ter)	rs387906984
NM_014918.5(CHSY1):c.321-3C>G	rs1567106459
NM_014918.5(CHSY1):c.55_84del (p.Gly19_Leu28del)
NM_014918.5(CHSY1):c.96del (p.Glu33fs)	rs1596459125

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