List of variants in gene NPHP1 reported as uncertain significance for Nephronophthisis 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 40

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HGVS	dbSNP	gnomAD frequency
NM_001128178.3(NPHP1):c.*194T>C	rs189472793	0.00318
NM_001128178.3(NPHP1):c.1270-4C>T	rs151204566	0.00181
NM_001128178.3(NPHP1):c.*250C>T	rs150558683	0.00139
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)	rs140446520	0.00127
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)	rs140469160	0.00088
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=)	rs141763330	0.00039
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)	rs149887461	0.00033
NM_001128178.3(NPHP1):c.771+89A>G	rs139787582	0.00023
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)	rs371112962	0.00019
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu)	rs138181219	0.00018
NM_000272.3(NPHP1):c.-54C>T	rs777453061	0.00009
NM_000272.4(NPHP1):c.*460T>A	rs960612307	0.00008
NM_001128178.3(NPHP1):c.1761+5A>C	rs201030203	0.00006
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)	rs200631256	0.00005
NM_001128178.3(NPHP1):c.*238T>C	rs897567205	0.00004
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)	rs780427871	0.00004
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser)	rs769509705	0.00002
NM_001128178.3(NPHP1):c.*322A>G	rs886054752	0.00001
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr)	rs147090619	0.00001
NM_001128178.3(NPHP1):c.1716+15T>C	rs368590150	0.00001
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)	rs767719020	0.00001
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=)	rs143163969	0.00001
NM_001128178.3(NPHP1):c.*199A>G	rs1679131109
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys)	rs375907280
NM_001128178.3(NPHP1):c.1279G>C (p.Glu427Gln)	rs886054753
NM_001128178.3(NPHP1):c.1352+5G>A	rs1681080526
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys)	rs1212780955
NM_001128178.3(NPHP1):c.143G>A (p.Arg48Lys)	rs779393628
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu)	rs573192954
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=)	rs1679799639
NM_001128178.3(NPHP1):c.1717-5T>G	rs1679303713
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp)	rs538690900
NM_001128178.3(NPHP1):c.30C>T (p.Leu10=)	rs977347524
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys)	rs1408606648
NM_001128178.3(NPHP1):c.593A>G (p.Asn198Ser)	rs886054756
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=)	rs886054755
NM_001128178.3(NPHP1):c.771+148G>T	rs753796140
NM_001128178.3(NPHP1):c.771+178C>T	rs767903893
NM_001128178.3(NPHP1):c.772-5T>C	rs201478764
NM_001128178.3(NPHP1):c.820G>C (p.Gly274Arg)	rs886054754

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