List of variants in gene NPHP4 reported by Gharavi Laboratory, Columbia University

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs)	rs1368105372	0.00005
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter)	rs370210428	0.00004
NM_015102.5(NPHP4):c.2579G>A (p.Gly860Glu)	rs1487910110	0.00001
NM_015102.5(NPHP4):c.1046T>G (p.Val349Gly)	rs1557804355
NM_015102.5(NPHP4):c.1149_1150insCC (p.Ala384fs)	rs1557768696
NM_015102.5(NPHP4):c.1985G>A (p.Trp662Ter)	rs1557697311
NM_015102.5(NPHP4):c.2858_2859del (p.Gln953fs)	rs1557619525
NM_015102.5(NPHP4):c.287A>G (p.Tyr96Cys)	rs1557860994
NM_015102.5(NPHP4):c.3082_3083delinsCT (p.Gly1028Leu)	rs1557616029
NM_015102.5(NPHP4):c.3930_3939del (p.Asp1311fs)	rs1557580413

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