ClinVar Miner

List of variants studied for Hyperphosphatasia with intellectual disability syndrome 1 by Illumina Laboratory Services, Illumina

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_017837.4(PIGV):c.-338A>C rs113400508 0.05897
NM_017837.4(PIGV):c.*210A>G rs57189461 0.05712
NM_017837.4(PIGV):c.615C>T (p.Asn205=) rs34512715 0.00995
NM_017837.4(PIGV):c.101C>T (p.Pro34Leu) rs139246652 0.00505
NM_017837.4(PIGV):c.*167G>A rs142176099 0.00264
NM_017837.4(PIGV):c.1277C>T (p.Pro426Leu) rs146969255 0.00109
NM_017837.4(PIGV):c.349A>G (p.Ile117Val) rs142192097 0.00097
NM_017837.4(PIGV):c.348G>A (p.Leu116=) rs148662665 0.00096
NM_017837.4(PIGV):c.*149G>A rs3754360 0.00091
NM_017837.4(PIGV):c.1369C>T (p.Leu457Phe) rs143676075 0.00068
NM_017837.4(PIGV):c.879G>A (p.Pro293=) rs147229452 0.00031
NM_017837.4(PIGV):c.*385A>T rs754912311 0.00026
NM_017837.4(PIGV):c.*441C>T rs777566769 0.00019
NM_017837.4(PIGV):c.-323C>T rs771484813 0.00016
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu) rs139073416 0.00014
NM_017837.4(PIGV):c.473G>A (p.Ser158Asn) rs201332799 0.00014
NM_017837.4(PIGV):c.1467C>G (p.Phe489Leu) rs146467198 0.00009
NM_017837.4(PIGV):c.*367A>G rs1057515475 0.00006
NM_017837.4(PIGV):c.808C>T (p.Arg270Cys) rs374158705 0.00006
NM_017837.4(PIGV):c.980A>G (p.Asn327Ser) rs142884955 0.00006
NM_017837.4(PIGV):c.809G>A (p.Arg270His) rs149379900 0.00005
NM_017837.4(PIGV):c.614A>G (p.Asn205Ser) rs766452597 0.00004
NM_017837.4(PIGV):c.-57-6G>A rs931609061 0.00003
NM_017837.4(PIGV):c.*114C>A rs755907769 0.00002
NM_017837.4(PIGV):c.1147G>A (p.Val383Met) rs765449173 0.00002
NM_017837.4(PIGV):c.223G>A (p.Ala75Thr) rs760514806 0.00002
NM_017837.4(PIGV):c.732G>A (p.Ser244=) rs763773056 0.00002
NM_017837.4(PIGV):c.*186G>T rs1057515440 0.00001
NM_017837.4(PIGV):c.*473T>G rs1159922063 0.00001
NM_017837.4(PIGV):c.-166G>A rs1414686345 0.00001
NM_017837.4(PIGV):c.-68G>A rs1047829091 0.00001
NM_017837.4(PIGV):c.1213T>A (p.Phe405Ile) rs1057515509 0.00001
NM_017837.4(PIGV):c.968A>G (p.Lys323Arg) rs774991514 0.00001
NM_017837.4(PIGV):c.*110T>C rs1057515439
NM_017837.4(PIGV):c.*453A>T rs1057515441
NM_017837.4(PIGV):c.*456C>T rs1570650188
NM_017837.4(PIGV):c.-184G>T rs2081261073
NM_017837.4(PIGV):c.-333C>T rs118069986
NM_017837.4(PIGV):c.1008A>G (p.Ile336Met) rs1057515437
NM_017837.4(PIGV):c.1464C>T (p.Asn488=) rs973687848
NM_017837.4(PIGV):c.1477A>G (p.Thr493Ala) rs1057515548
NM_017837.4(PIGV):c.265C>T (p.Pro89Ser) rs2081350228
NM_017837.4(PIGV):c.312C>G (p.Pro104=) rs377286273
NM_017837.4(PIGV):c.531A>T (p.Thr177=) rs1057515474
NM_017837.4(PIGV):c.78+4A>G rs376403688
NM_017837.4(PIGV):c.851G>A (p.Gly284Asp) rs557206710

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