ClinVar Miner

List of variants reported as benign for PSPH deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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NM_004577.4(PSPH):c.*11C>T rs35136814
NM_004577.4(PSPH):c.*361A>G rs4947534
NM_004577.4(PSPH):c.*406G>A rs145544909
NM_004577.4(PSPH):c.*490C>T rs71543776
NM_004577.4(PSPH):c.117C>T (p.Gly39=) rs199851385
NM_004577.4(PSPH):c.120T>A (p.Val40=) rs202027697
NM_004577.4(PSPH):c.126C>T (p.Asp42=)
NM_004577.4(PSPH):c.145C>T (p.Arg49Trp) rs79451216
NM_004577.4(PSPH):c.159C>T (p.Gly53=) rs74874687
NM_004577.4(PSPH):c.169C>T (p.Pro57Ser)
NM_004577.4(PSPH):c.189A>G (p.Thr63=)
NM_004577.4(PSPH):c.194G>A (p.Arg65His)
NM_004577.4(PSPH):c.203T>C (p.Leu68Pro)
NM_004577.4(PSPH):c.204C>A (p.Leu68=)
NM_004577.4(PSPH):c.650T>C (p.Val217Ala) rs73343752
NM_004577.4(PSPH):c.81A>T (p.Arg27Ser) rs74445297
NM_004577.4(PSPH):c.95A>G (p.Asp32Gly) rs78599516

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