ClinVar Miner

List of variants reported as likely benign for NPHP3-related Meckel-like syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.*266G>A rs11708200 0.03396
NM_153240.5(NPHP3):c.2571-7T>C rs62292468 0.02974
NM_153240.5(NPHP3):c.*785G>A rs6774366 0.02518
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449 0.01825
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254 0.01496
NM_153240.5(NPHP3):c.57G>C (p.Thr19=) rs192633696 0.01128
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val) rs142663818 0.00142

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