ClinVar Miner

List of variants reported as likely benign for PSPH deficiency by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_004577.3(PSPH):c.-632C>T rs34822782
NM_004577.4(PSPH):c.*11C>T rs35136814
NM_004577.4(PSPH):c.*406G>A rs145544909
NM_004577.4(PSPH):c.*490C>T rs71543776
NM_004577.4(PSPH):c.-19-13dup rs368626187
NM_004577.4(PSPH):c.249A>C (p.Gln83His) rs73343757

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