ClinVar Miner

List of variants in gene NPHP1 reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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NM_000272.3(NPHP1):c.1698-10delT rs779032904
NM_000272.3(NPHP1):c.728+8delA rs863224357
NM_000272.4(NPHP1):c.1121C>T (p.Thr374Ile) rs140469160
NM_000272.4(NPHP1):c.115C>A (p.Pro39Thr) rs33958626
NM_000272.4(NPHP1):c.14G>T (p.Arg5Leu) rs190983114
NM_000272.4(NPHP1):c.156A>G (p.Leu52=) rs759699517
NM_000272.4(NPHP1):c.1602C>T (p.His534=) rs148809478
NM_000272.4(NPHP1):c.1637G>A (p.Arg546Lys) rs149887461
NM_000272.4(NPHP1):c.2097G>A (p.Gln699=) rs1553479835
NM_000272.4(NPHP1):c.2118G>A (p.Leu706=) rs144850331
NM_000272.4(NPHP1):c.232T>C (p.Tyr78His) rs140446520
NM_000272.4(NPHP1):c.39G>A (p.Leu13=) rs1553498753
NM_000272.4(NPHP1):c.810C>T (p.Cys270=) rs73954628
NM_000272.4(NPHP1):c.830G>A (p.Arg277Gln) rs143174377

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