List of variants reported as pathogenic for polydactyly-syndactyly-triphalangism by Genetic Services Laboratory, University of Chicago

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)	rs539400286	0.00002
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)	rs386833763	0.00001
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)	rs797045706	0.00001
NM_000168.6(GLI3):c.2685C>G (p.Tyr895Ter)	rs772948115
NM_001378615.1(CC2D2A):c.4179+1del	rs386833760
NM_017777.4(MKS1):c.1408-1dup	rs762668200
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)	rs386834148
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)	rs62640570
NM_025114.4(CEP290):c.4621del (p.Thr1541fs)	rs587779733
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter)	rs863225185

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