List of variants reported as uncertain significance for Nephronophthisis by Sydney Genome Diagnostics, Children's Hospital Westmead

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.284A>G (p.Asp95Gly)	rs41269547	0.00561
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)	rs139767853	0.00374
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys)	rs116606479	0.00068
NM_014956.5(CEP164):c.4060G>A (p.Asp1354Asn)	rs200520898	0.00017
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)	rs756856188	0.00014
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala)	rs1057518064	0.00001
NM_015662.3(IFT172):c.1295G>A (p.Arg432His)	rs1327376049	0.00001
NM_133433.4(NIPBL):c.2741C>G (p.Thr914Ser)	rs1329800608	0.00001
NM_001378615.1(CC2D2A):c.2671G>C (p.Glu891Gln)	rs863225178
NM_001378615.1(CC2D2A):c.3056G>A (p.Arg1019Gln)	rs746926711
NM_001384732.1(CPLANE1):c.1840T>C (p.Cys614Arg)	rs1796552273
NM_001384732.1(CPLANE1):c.6430C>G (p.Pro2144Ala)	rs1779345100
NM_014425.5(INVS):c.491A>G (p.His164Arg)	rs1831445914
NM_015102.5(NPHP4):c.871_889delinsC (p.Val291_Phe297delinsLeu)	rs1553186265
NM_015662.3(IFT172):c.2327C>T (p.Ala776Val)	rs1317766293

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