List of variants in gene combination NPHP3, NPHP3-ACAD11 reported as likely pathogenic for autosomal recessive disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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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.1928C>T (p.Pro643Leu)	rs760831781	0.00004
NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter)	rs148670389	0.00004
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro)	rs398124546	0.00002
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter)	rs201237799	0.00002
NM_153240.5(NPHP3):c.2570+1G>T	rs1322038132	0.00002
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter)	rs758716466	0.00002
NM_153240.5(NPHP3):c.393+1G>C	rs754332448	0.00002
NM_153240.5(NPHP3):c.1871C>T (p.Ser624Phe)	rs1939561839	0.00001
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=)	rs558637226	0.00001
NM_153240.5(NPHP3):c.2171+1G>A	rs1280230808	0.00001
NM_153240.5(NPHP3):c.2311-1G>C	rs1363032805	0.00001
NM_153240.5(NPHP3):c.2311-2A>G	rs1332659264	0.00001
NM_153240.5(NPHP3):c.2694-2A>T	rs1395411307	0.00001
NM_153240.5(NPHP3):c.2805C>T (p.Gly935=)	rs1281725083	0.00001
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter)	rs1007848349	0.00001
NM_153240.5(NPHP3):c.3494G>A (p.Arg1165Gln)	rs138630766	0.00001
NM_153240.4(NPHP3):c.[2108A>C];[3373C>T]
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del)	rs1456714047
NM_153240.5(NPHP3):c.1525-2A>G
NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
NM_153240.5(NPHP3):c.1628+2T>A	rs1277862520
NM_153240.5(NPHP3):c.1888-7_1893del	rs1553773296
NM_153240.5(NPHP3):c.1985+1G>A	rs1553773271
NM_153240.5(NPHP3):c.2172-2A>C
NM_153240.5(NPHP3):c.2172-2A>G	rs547310372
NM_153240.5(NPHP3):c.3201+2T>G
NM_153240.5(NPHP3):c.326TGT[1] (p.Leu110del)	rs753616848
NM_153240.5(NPHP3):c.3406C>T (p.Gln1136Ter)	rs1576660495
NM_153240.5(NPHP3):c.3419dup (p.Asn1140fs)	rs1939111919
NM_153240.5(NPHP3):c.3696_3696+3del
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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