ClinVar Miner

List of variants reported as likely benign for PSPH deficiency by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_004577.4(PSPH):c.455C>T (p.Thr152Ile) rs147304638 0.00081
NM_004577.4(PSPH):c.624C>T (p.Asn208=) rs146008713 0.00011
NM_004577.4(PSPH):c.354T>C (p.His118=) rs373775129 0.00009
NM_004577.4(PSPH):c.447G>A (p.Thr149=) rs143341199 0.00004
NM_004577.4(PSPH):c.422-14A>G rs749619757 0.00002
NM_004577.4(PSPH):c.414C>T (p.Tyr138=) rs756554508 0.00001
NM_004577.4(PSPH):c.542C>T (p.Ala181Val) rs527489732 0.00001
NM_004577.4(PSPH):c.609A>G (p.Gln203=) rs752178752 0.00001
NM_004577.4(PSPH):c.615C>T (p.Val205=) rs1335846307 0.00001
NM_004577.4(PSPH):c.276-14A>G
NM_004577.4(PSPH):c.276-17T>C
NM_004577.4(PSPH):c.276-20T>G
NM_004577.4(PSPH):c.276-4G>C
NM_004577.4(PSPH):c.339G>A (p.Arg113=) rs2116568145
NM_004577.4(PSPH):c.351G>A (p.Glu117=)
NM_004577.4(PSPH):c.369C>T (p.Leu123=) rs773338634
NM_004577.4(PSPH):c.372T>C (p.Asn124=)
NM_004577.4(PSPH):c.390A>G (p.Val130=)
NM_004577.4(PSPH):c.408A>G (p.Lys136=)
NM_004577.4(PSPH):c.421+12A>T rs2116565444
NM_004577.4(PSPH):c.421+20A>G
NM_004577.4(PSPH):c.421+20A>T
NM_004577.4(PSPH):c.422-14A>C rs749619757
NM_004577.4(PSPH):c.422-4T>G
NM_004577.4(PSPH):c.432A>C (p.Ala144=)
NM_004577.4(PSPH):c.441T>C (p.Asp147=)
NM_004577.4(PSPH):c.450G>A (p.Gln150=) rs2116515322
NM_004577.4(PSPH):c.489A>G (p.Lys163=) rs2116514516
NM_004577.4(PSPH):c.540T>C (p.Gly180=)
NM_004577.4(PSPH):c.549T>C (p.Asp183=)
NM_004577.4(PSPH):c.570+12G>C
NM_004577.4(PSPH):c.570+14G>A
NM_004577.4(PSPH):c.570+19A>G rs2116512576
NM_004577.4(PSPH):c.604A>C (p.Arg202=)
NM_004577.4(PSPH):c.651A>G (p.Val217=)
NM_004577.4(PSPH):c.672A>G (p.Glu224=)

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