ClinVar Miner

List of variants studied for NPHP3-related Meckel-like syndrome by Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_153240.4(NPHP3):c.1082C>G (p.Ser361Cys) rs146250226
NM_153240.4(NPHP3):c.1817G>A (p.Trp606Ter) rs182135982
NM_153240.4(NPHP3):c.2881C>G (p.Gln961Glu) rs144989330
NM_153240.4(NPHP3):c.3896G>A (p.Gly1299Asp) rs190548695
NM_153240.4(NPHP3):c.65C>T (p.Ala22Val) rs369447363
NM_153240.4(NPHP3):c.944A>T (p.Asp315Val) rs149565564

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