List of variants studied for Nephronophthisis 4 by Genome-Nilou Lab

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_015102.5(NPHP4):c.2612-33G>A	rs3747989	0.83595
NM_015102.5(NPHP4):c.3231+41T>C	rs868163	0.64813
NM_015102.5(NPHP4):c.2802C>T (p.Arg934=)	rs3747992	0.36928
NM_015102.5(NPHP4):c.3570A>G (p.Glu1190=)	rs555164	0.35094
NM_015102.5(NPHP4):c.3645-38C>T	rs1287634	0.34998
NM_015102.5(NPHP4):c.1441+13A>G	rs7520105	0.17476
NM_015102.5(NPHP4):c.2643G>A (p.Ala881=)	rs3747990	0.11763
NM_015102.5(NPHP4):c.2485+38C>T	rs41280814	0.11752
NM_015102.5(NPHP4):c.1926G>A (p.Glu642=)	rs12120967	0.11732
NM_015102.5(NPHP4):c.1470C>T (p.Leu490=)	rs12116997	0.04804
NM_015102.5(NPHP4):c.86C>T (p.Thr29Met)	rs12142270	0.04382

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