ClinVar Miner

List of variants reported as likely benign for NPHP3-related Meckel-like syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_153240.5(NPHP3):c.*266G>A rs11708200
NM_153240.5(NPHP3):c.*785G>A rs6774366
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254
NM_153240.5(NPHP3):c.2571-7T>C rs62292468
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val) rs142663818
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322
NM_153240.5(NPHP3):c.57G>C (p.Thr19=) rs192633696
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449

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