ClinVar Miner

List of variants in gene PSPH reported as likely benign for inborn disorder of serine family metabolism

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_004577.3(PSPH):c.-632C>T rs34822782 0.03837
NM_004577.4(PSPH):c.650T>C (p.Val217Ala) rs73343752 0.00788
NM_004577.4(PSPH):c.-442A>G rs184427284 0.00526
NM_004577.4(PSPH):c.-456T>C rs190216482 0.00411
NM_004577.4(PSPH):c.72G>C (p.Thr24=) rs145408555 0.00245
NM_004577.4(PSPH):c.146G>A (p.Arg49Gln) rs144281276 0.00138
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.*317G>A rs565399960 0.00009
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.-19-13dup rs368626187
NM_004577.4(PSPH):c.-2C>G rs201445503
NM_004577.4(PSPH):c.-3G>A rs201958642
NM_004577.4(PSPH):c.249A>C (p.Gln83His) rs73343757
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+10T>C
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.571-5C>T
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=)
NM_004577.4(PSPH):c.95A>G (p.Asp32Gly) rs78599516

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