List of variants studied for ciliopathy by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_015690.5(STK36):c.3643G>A (p.Ala1215Thr)	rs537610210	0.00001
NM_001270974.2(HYDIN):c.11712del (p.Gln3905fs)
NM_001270974.2(HYDIN):c.2065dup (p.Ile689fs)	rs2082305577
NM_015690.5(STK36):c.1232A>T (p.Asn411Ile)	rs2106349072
NM_016343.4(CENPF):c.3424A>G (p.Met1142Val)	rs778072776
NM_025114.4(CEP290):c.104T>G (p.Val35Gly)
NM_031924.8(RSPH3):c.280C>T (p.Gln94Ter)
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs)	rs868404889
NM_170784.3(MKKS):c.1490G>A (p.Cys497Tyr)	rs2122219712
NM_198428.3(BBS9):c.2113C>T (p.Gln705Ter)

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