ClinVar Miner

List of variants in gene PAPSS2 reported as likely benign for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_001015880.2(PAPSS2):c.1350C>T (p.Gly450=) rs139998869 0.00072
NM_001015880.2(PAPSS2):c.267C>T (p.Leu89=) rs144784084 0.00066
NM_001015880.2(PAPSS2):c.1167C>T (p.Asp389=) rs145242127 0.00064
NM_001015880.2(PAPSS2):c.1650G>A (p.Val550=) rs145818698 0.00034
NM_001015880.2(PAPSS2):c.27+14C>A rs368566187 0.00024
NM_001015880.2(PAPSS2):c.885C>T (p.Gly295=) rs759284893 0.00017
NM_001015880.2(PAPSS2):c.520+10T>C rs372409346 0.00011
NM_001015880.2(PAPSS2):c.675C>T (p.His225=) rs372842598 0.00010
NM_001015880.2(PAPSS2):c.708C>T (p.His236=) rs376121158 0.00010
NM_001015880.2(PAPSS2):c.1524G>A (p.Ala508=) rs142268621 0.00009
NM_001015880.2(PAPSS2):c.1368C>T (p.Asp456=) rs377483950 0.00008
NM_001015880.2(PAPSS2):c.754-11G>A rs368741177 0.00008
NM_001015880.2(PAPSS2):c.849T>C (p.Phe283=) rs529851319 0.00006
NM_001015880.2(PAPSS2):c.881-10C>T rs772537897 0.00006
NM_001015880.2(PAPSS2):c.1592T>C (p.Leu531Pro) rs151328869 0.00005
NM_001015880.2(PAPSS2):c.1722-16T>G rs779811310 0.00005
NM_001015880.2(PAPSS2):c.1722-11C>T rs368840181 0.00004
NM_001015880.2(PAPSS2):c.990A>G (p.Val330=) rs148202527 0.00004
NM_001015880.2(PAPSS2):c.881-7T>C rs1048966989 0.00003
NM_001015880.2(PAPSS2):c.1602C>T (p.Pro534=) rs764414580 0.00002
NM_001015880.2(PAPSS2):c.603C>T (p.Asp201=) rs377265449 0.00002
NM_001015880.2(PAPSS2):c.865+10T>C rs772345172 0.00002
NM_001015880.2(PAPSS2):c.146-15A>G rs1192773097 0.00001
NM_001015880.2(PAPSS2):c.1539C>T (p.Tyr513=) rs201146455 0.00001
NM_001015880.2(PAPSS2):c.1557T>C (p.Pro519=) rs748087437 0.00001
NM_001015880.2(PAPSS2):c.1794T>C (p.Asp598=) rs771442958 0.00001
NM_001015880.2(PAPSS2):c.1797C>T (p.Gly599=) rs759530933 0.00001
NM_001015880.2(PAPSS2):c.27+16C>T rs779210508 0.00001
NM_001015880.2(PAPSS2):c.639+12G>A rs772404922 0.00001
NM_001015880.2(PAPSS2):c.639+7G>A rs952952340 0.00001
NM_001015880.2(PAPSS2):c.801C>G (p.Pro267=) rs966311239 0.00001
NM_001015880.2(PAPSS2):c.1005C>T (p.Asp335=)
NM_001015880.2(PAPSS2):c.1185T>G (p.Pro395=)
NM_001015880.2(PAPSS2):c.1222+8A>T
NM_001015880.2(PAPSS2):c.1223-14C>T
NM_001015880.2(PAPSS2):c.1239C>T (p.Phe413=)
NM_001015880.2(PAPSS2):c.1350C>G (p.Gly450=)
NM_001015880.2(PAPSS2):c.1395G>A (p.Lys465=)
NM_001015880.2(PAPSS2):c.1413C>T (p.Leu471=) rs749432936
NM_001015880.2(PAPSS2):c.145+14AT[11]
NM_001015880.2(PAPSS2):c.1452C>T (p.Ala484=)
NM_001015880.2(PAPSS2):c.1492-10C>T
NM_001015880.2(PAPSS2):c.1492-7T>G
NM_001015880.2(PAPSS2):c.1563A>C (p.Gly521=)
NM_001015880.2(PAPSS2):c.1662A>G (p.Pro554=)
NM_001015880.2(PAPSS2):c.1671G>C (p.Val557=)
NM_001015880.2(PAPSS2):c.1680C>T (p.Tyr560=) rs1564730607
NM_001015880.2(PAPSS2):c.1695A>G (p.Lys565=)
NM_001015880.2(PAPSS2):c.1710T>C (p.Tyr570=)
NM_001015880.2(PAPSS2):c.1721+16A>G
NM_001015880.2(PAPSS2):c.1722-7_1722-6delinsTG rs2131732794
NM_001015880.2(PAPSS2):c.1767C>T (p.Leu589=)
NM_001015880.2(PAPSS2):c.1770C>T (p.Ala590=)
NM_001015880.2(PAPSS2):c.381+10_381+24dup rs367885911
NM_001015880.2(PAPSS2):c.381+12_381+24dup rs367885911
NM_001015880.2(PAPSS2):c.381+13_381+24dup rs367885911
NM_001015880.2(PAPSS2):c.381+14_381+24dup rs367885911
NM_001015880.2(PAPSS2):c.381+22_381+24dup rs367885911
NM_001015880.2(PAPSS2):c.381+23_381+24dup rs367885911
NM_001015880.2(PAPSS2):c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAAA rs367885911
NM_001015880.2(PAPSS2):c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAAAAA rs367885911
NM_001015880.2(PAPSS2):c.381+3_381+24dup rs367885911
NM_001015880.2(PAPSS2):c.381+5_381+24dup rs367885911
NM_001015880.2(PAPSS2):c.381+7_381+24dup rs367885911
NM_001015880.2(PAPSS2):c.382-12A>G
NM_001015880.2(PAPSS2):c.382-8C>A
NM_001015880.2(PAPSS2):c.521-13A>G
NM_001015880.2(PAPSS2):c.552A>G (p.Lys184=)
NM_001015880.2(PAPSS2):c.60T>C (p.Tyr20=)
NM_001015880.2(PAPSS2):c.639+11C>A
NM_001015880.2(PAPSS2):c.648A>G (p.Val216=)
NM_001015880.2(PAPSS2):c.681C>G (p.Leu227=)
NM_001015880.2(PAPSS2):c.705C>T (p.Asp235=)
NM_001015880.2(PAPSS2):c.754-5T>G
NM_001015880.2(PAPSS2):c.783C>T (p.Ser261=)
NM_001015880.2(PAPSS2):c.834A>G (p.Leu278=)
NM_001015880.2(PAPSS2):c.855C>A (p.Thr285=)
NM_001015880.2(PAPSS2):c.865+17G>T
NM_001015880.2(PAPSS2):c.881-18A>T
NM_001015880.2(PAPSS2):c.881-19_881-18insTT
NM_001015880.2(PAPSS2):c.885C>G (p.Gly295=)
NM_001015880.2(PAPSS2):c.945G>A (p.Leu315=) rs2131720645
NM_001015880.2(PAPSS2):c.963T>C (p.Phe321=)
NM_001015880.2(PAPSS2):c.981A>G (p.Gly327=)
NM_001015880.2(PAPSS2):c.987G>A (p.Arg329=)

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