List of variants in gene NPHP4 reported as likely pathogenic for not provided

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys)	rs373369949	0.00007
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs)	rs1368105372	0.00005
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp)	rs369162678	0.00004
NM_015102.5(NPHP4):c.518-2A>G	rs761142233	0.00002
NM_015102.5(NPHP4):c.2579G>A (p.Gly860Glu)	rs1487910110	0.00001
NM_015102.5(NPHP4):c.1149_1150insCC (p.Ala384fs)	rs1557768696
NM_015102.5(NPHP4):c.1421_1423delinsCGTGG (p.Lys474fs)	rs1553178047
NM_015102.5(NPHP4):c.3678G>A (p.Trp1226Ter)
NM_015102.5(NPHP4):c.3930_3939del (p.Asp1311fs)	rs1557580413
NM_015102.5(NPHP4):c.4031_4037del (p.Lys1344fs)	rs1557578607

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