List of variants in gene combination NPHP3, NPHP3-ACAD11 reported as likely pathogenic for Meckel syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp)	rs781180515	0.00005
NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter)	rs148670389	0.00004
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter)	rs201237799	0.00002
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter)	rs758716466	0.00002
NM_153240.5(NPHP3):c.2171+1G>A	rs1280230808	0.00001
NM_153240.5(NPHP3):c.2311-2A>G	rs1332659264	0.00001
NM_153240.5(NPHP3):c.2805C>T (p.Gly935=)	rs1281725083	0.00001
NM_153240.5(NPHP3):c.1220_1221del (p.Ser407fs)	rs1404621140
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del)	rs1456714047
NM_153240.5(NPHP3):c.1936_1937del (p.Val646fs)
NM_153240.5(NPHP3):c.1985+1G>A	rs1553773271
NM_153240.5(NPHP3):c.3757C>G (p.Leu1253Val)	rs775281384
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del)	rs119456959
NM_153240.5(NPHP3):c.634dup (p.Glu212fs)	rs747052534

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