ClinVar Miner

List of variants reported as uncertain significance for Deficiency of phosphoserine phosphatase by Invitae

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_004577.4(PSPH):c.422-3A>C rs376149020 0.00014
NM_004577.4(PSPH):c.673G>A (p.Glu225Lys) rs536712417 0.00009
NM_004577.4(PSPH):c.346G>A (p.Val116Ile) rs751400364 0.00005
NM_004577.4(PSPH):c.420C>T (p.Asn140=) rs146276460 0.00005
NM_004577.4(PSPH):c.398A>G (p.Asn133Ser) rs148469975 0.00004
NM_004577.4(PSPH):c.570+5G>C rs373367280 0.00004
NM_004577.4(PSPH):c.371A>G (p.Asn124Ser) rs761409780 0.00003
NM_004577.4(PSPH):c.469G>T (p.Gly157Ter) rs1410416350 0.00002
NM_004577.4(PSPH):c.597T>G (p.Asn199Lys) rs1324086852 0.00002
NM_004577.4(PSPH):c.635A>G (p.Tyr212Cys) rs775832385 0.00002
NM_004577.4(PSPH):c.289C>T (p.Arg97Cys) rs754344374 0.00001
NM_004577.4(PSPH):c.386A>G (p.Asn129Ser) rs771251320 0.00001
NM_004577.4(PSPH):c.446C>T (p.Thr149Met) rs374024099 0.00001
NM_004577.4(PSPH):c.467G>A (p.Gly156Asp) rs750270446 0.00001
NM_004577.4(PSPH):c.506T>C (p.Phe169Ser) rs1253579440 0.00001
NM_004577.4(PSPH):c.575C>T (p.Ala192Val) rs779259191 0.00001
NM_004577.4(PSPH):c.596A>T (p.Asn199Ile) rs753682900 0.00001
NM_004577.4(PSPH):c.647T>G (p.Phe216Cys) rs935820820 0.00001
NC_000007.13:g.(?_56079455)_(56082884_?)del
NC_000007.13:g.(?_56079455)_(56085092_?)del
NC_000007.13:g.(?_56079455)_(56085092_?)dup
NC_000007.13:g.(?_56079455)_(56174106_?)del
NC_000007.13:g.(?_56079455)_(56174106_?)dup
NM_004577.4(PSPH):c.276-2A>G
NM_004577.4(PSPH):c.276G>A (p.Arg92=) rs2116569669
NM_004577.4(PSPH):c.302G>A (p.Arg101Gln)
NM_004577.4(PSPH):c.305A>G (p.Asn102Ser) rs1562786740
NM_004577.4(PSPH):c.306_307insTTC (p.Asn102_Val103insPhe) rs2116568545
NM_004577.4(PSPH):c.316T>C (p.Phe106Leu) rs1295914487
NM_004577.4(PSPH):c.341G>T (p.Ser114Ile)
NM_004577.4(PSPH):c.351G>T (p.Glu117Asp) rs766126853
NM_004577.4(PSPH):c.353A>G (p.His118Arg)
NM_004577.4(PSPH):c.358G>T (p.Ala120Ser)
NM_004577.4(PSPH):c.366G>C (p.Lys122Asn)
NM_004577.4(PSPH):c.379G>A (p.Ala127Thr)
NM_004577.4(PSPH):c.402G>T (p.Arg134Ser)
NM_004577.4(PSPH):c.421G>A (p.Gly141Ser)
NM_004577.4(PSPH):c.424G>A (p.Glu142Lys)
NM_004577.4(PSPH):c.464C>T (p.Ser155Phe)
NM_004577.4(PSPH):c.479A>G (p.Lys160Arg) rs2116514675
NM_004577.4(PSPH):c.484A>G (p.Ile162Val)
NM_004577.4(PSPH):c.509A>G (p.His170Arg) rs1788401716
NM_004577.4(PSPH):c.593G>A (p.Gly198Glu)
NM_004577.4(PSPH):c.595A>C (p.Asn199His)
NM_004577.4(PSPH):c.612A>C (p.Gln204His)
NM_004577.4(PSPH):c.641C>G (p.Thr214Ser) rs2116425690
NM_004577.4(PSPH):c.673G>C (p.Glu225Gln) rs536712417

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