ClinVar Miner

List of variants in gene PSPH reported as likely benign for PSPH deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_004577.3(PSPH):c.-632C>T rs34822782
NM_004577.4(PSPH):c.*317G>A rs565399960
NM_004577.4(PSPH):c.-19-13dup rs368626187
NM_004577.4(PSPH):c.-442A>G rs184427284
NM_004577.4(PSPH):c.-456T>C rs190216482
NM_004577.4(PSPH):c.146G>A (p.Arg49Gln) rs144281276
NM_004577.4(PSPH):c.249A>C (p.Gln83His) rs73343757
NM_004577.4(PSPH):c.455C>T (p.Thr152Ile) rs147304638
NM_004577.4(PSPH):c.650T>C (p.Val217Ala) rs73343752
NM_004577.4(PSPH):c.72G>C (p.Thr24=) rs145408555
NM_004577.4(PSPH):c.95A>G (p.Asp32Gly) rs78599516

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