List of variants studied for Joubert syndrome with oculorenal defect by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_001379286.1(ZNF423):c.2762C>T (p.Pro921Leu)	rs200585917	0.00023
NM_001044385.3(TMEM237):c.806C>T (p.Ala269Val)	rs768672107	0.00003
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys)	rs779823379	0.00002
NM_001378615.1(CC2D2A):c.4688C>G (p.Pro1563Arg)	rs886059186	0.00002
NM_001044385.3(TMEM237):c.137-2A>G
NM_001044385.3(TMEM237):c.62del (p.Pro21fs)	rs1574587553
NM_001044385.3(TMEM237):c.869+1G>A	rs730882231
NM_001378615.1(CC2D2A):c.2339-2A>C	rs1719092280
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs)	rs386833749
NM_001378615.1(CC2D2A):c.3160C>A (p.Pro1054Thr)	rs1719718448
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)	rs118204051
NM_001378615.1(CC2D2A):c.3643A>C (p.Ser1215Arg)	rs765661601
NM_001378615.1(CC2D2A):c.3992A>G (p.Tyr1331Cys)	rs1720848250
NM_001378615.1(CC2D2A):c.4437+1G>A	rs786205568
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)	rs1721483506
NM_001378615.1(CC2D2A):c.650del (p.Gly217fs)	rs746415983
NM_001379286.1(ZNF423):c.302A>T (p.Asp101Val)
NM_016464.5(TMEM138):c.377-3C>G	rs774110963
NM_016464.5(TMEM138):c.401A>G (p.Tyr134Cys)
NM_025114.4(CEP290):c.1666del (p.Ile556fs)	rs727503855

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