ClinVar Miner

List of variants reported as uncertain significance for Ciliopathy

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_014704.4(CEP104):c.2182A>G (p.Asn728Asp) rs144805659 0.00019
NM_030578.4(B9D2):c.224G>A (p.Arg75Gln) rs148087680 0.00014
NM_016122.3(CEP83):c.1118A>T (p.Asp373Val) rs200971081 0.00013
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) rs201949664 0.00012
NM_030578.4(B9D2):c.131C>T (p.Thr44Met) rs150023579 0.00007
NM_001378615.1(CC2D2A):c.1340C>T (p.Ala447Val) rs775138548 0.00003
NM_001378615.1(CC2D2A):c.201G>A (p.Glu67=) rs1714586913 0.00001
NM_001378615.1(CC2D2A):c.3529C>T (p.Arg1177Cys) rs371561652 0.00001
NM_001379286.1(ZNF423):c.1459G>A (p.Ala487Thr) rs763675078 0.00001
NM_015202.5(KATNIP):c.952C>T (p.Arg318Trp) rs746719915 0.00001
NM_015681.6(B9D1):c.467G>A (p.Arg156Gln) rs886038205 0.00001
NM_001377.3(DYNC2H1):c.10309G>A (p.Glu3437Lys) rs865919156
NM_001378615.1(CC2D2A):c.123+459C>T
NM_001378615.1(CC2D2A):c.364G>A (p.Glu122Lys)
NM_001379286.1(ZNF423):c.2374A>G (p.Ile792Val)
NM_014055.4(IFT81):c.1188+1G>A rs864309657
NM_014055.4(IFT81):c.2015_2019del (p.Asp672fs) rs864309658
NM_015202.5(KATNIP):c.904C>G (p.Pro302Ala)
NM_015631.6(TCTN3):c.1770del (p.Ile591fs)
NM_015681.6(B9D1):c.365T>C (p.Phe122Ser)
NM_015681.6(B9D1):c.37G>A (p.Val13Ile)
NM_152730.6(TBC1D32):c.1608+5G>A
NM_152730.6(TBC1D32):c.3654+2T>G
NM_153704.6(TMEM67):c.224-3dup

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