List of variants in gene NPHP4 studied for perceptual disorders

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: 25

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HGVS	dbSNP	gnomAD frequency
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu)	rs35641267	0.00163
NM_015102.5(NPHP4):c.800A>T (p.His267Leu)	rs201124357	0.00124
NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr)	rs145078518	0.00057
NM_015102.5(NPHP4):c.2485+9C>A	rs200952409	0.00034
NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu)	rs201998215	0.00027
NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro)	rs375836844	0.00015
NM_015102.5(NPHP4):c.902C>T (p.Pro301Leu)	rs527701970	0.00014
NM_015102.5(NPHP4):c.3267C>T (p.Asp1089=)	rs187149431	0.00009
NM_015102.5(NPHP4):c.853C>T (p.Arg285Trp)	rs201680615	0.00009
NM_015102.5(NPHP4):c.868G>T (p.Gly290Cys)	rs755124987	0.00009
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys)	rs373369949	0.00007
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp)	rs587783027	0.00006
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter)	rs370210428	0.00004
NM_015102.5(NPHP4):c.2444dup (p.Val816fs)	rs1643875847	0.00001
NM_015102.5(NPHP4):c.2598_2607dup (p.Arg870fs)	rs752910449	0.00001
NM_015102.5(NPHP4):c.3704G>A (p.Arg1235His)	rs569553635	0.00001
NM_015102.5(NPHP4):c.1306_1314dup
NM_015102.5(NPHP4):c.2275C>T (p.Leu759Phe)
NM_015102.5(NPHP4):c.2360T>A (p.Val787Glu)	rs587783026
NM_015102.5(NPHP4):c.3644+1G>A	rs756111113
NM_015102.5(NPHP4):c.3718T>C (p.Cys1240Arg)	rs1028037857
NM_015102.5(NPHP4):c.4117C>T (p.Arg1373Trp)	rs1417370808
NM_015102.5(NPHP4):c.4222A>G (p.Ile1408Val)	rs1640827027
NM_015102.5(NPHP4):c.770_777del (p.Glu257fs)	rs2102003035
NM_015102.5(NPHP4):c.857G>A (p.Arg286His)

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