List of variants in gene NPHP4 reported as 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter)	rs370210428	0.00004
NM_015102.5(NPHP4):c.2611+1G>A	rs374141736	0.00003
NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter)	rs1210874691	0.00002
NM_015102.5(NPHP4):c.3272del (p.Val1091fs)	rs1278089386	0.00002
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter)	rs1025515771	0.00001
GRCh37/hg19 1p36.31(chr1:5979667-6007969)x1
NM_015102.5(NPHP4):c.189_192del (p.Phe63fs)	rs1553200990
NM_015102.5(NPHP4):c.2940_2944dup (p.His982fs)	rs398124289
NM_015102.5(NPHP4):c.3214C>T (p.Gln1072Ter)	rs1328836511
NM_015102.5(NPHP4):c.3316-2A>G	rs2100471616
NM_015102.5(NPHP4):c.3409_3412del (p.Tyr1137fs)	rs762371581
NM_015102.5(NPHP4):c.3506del (p.Pro1169fs)	rs775221217
NM_015102.5(NPHP4):c.3618del (p.Asp1208fs)	rs1557588167
NM_015102.5(NPHP4):c.669del (p.Glu223fs)	rs2102140073

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