ClinVar Miner

List of variants in gene combination PHEX, PTCHD1 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.2214G>A (p.Thr738=) rs140742016 0.00035
NM_000444.6(PHEX):c.1917C>A (p.Thr639=) rs201343697 0.00008
NM_000444.6(PHEX):c.1675T>C (p.Phe559Leu) rs762828809 0.00002
NM_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NM_000444.6(PHEX):c.1876T>C (p.Tyr626His) rs1036644594 0.00001
NM_000444.6(PHEX):c.1702T>C (p.Ser568Pro) rs768470624
NM_000444.6(PHEX):c.1706T>C (p.Leu569Pro) rs1556135242
NM_000444.6(PHEX):c.1726G>A (p.Val576Ile)
NM_000444.6(PHEX):c.1732G>C (p.Val578Leu)
NM_000444.6(PHEX):c.1733_1735dup (p.Val578_Gly579insVal)
NM_000444.6(PHEX):c.1751A>C (p.His584Pro) rs1935184414
NM_000444.6(PHEX):c.1768+4_1768+7del rs1935185742
NM_000444.6(PHEX):c.1768+5G>A rs1057524608
NM_000444.6(PHEX):c.1769-6_1784dup rs2147174326
NM_000444.6(PHEX):c.1798G>C (p.Asp600His)
NM_000444.6(PHEX):c.1814C>T (p.Thr605Ile)
NM_000444.6(PHEX):c.1853T>G (p.Met618Arg) rs1935274009
NM_000444.6(PHEX):c.1862A>C (p.Gln621Pro) rs1602405293
NM_000444.6(PHEX):c.1864T>C (p.Tyr622His) rs2147174582
NM_000444.6(PHEX):c.1899+3G>C rs1935276815
NM_000444.6(PHEX):c.1931T>C (p.Ile644Thr)
NM_000444.6(PHEX):c.1936G>T (p.Asp646Tyr) rs1556148532
NM_000444.6(PHEX):c.1949T>C (p.Leu650Pro) rs193922456
NM_000444.6(PHEX):c.1957G>C (p.Ala653Pro)
NM_000444.6(PHEX):c.1960T>A (p.Phe654Ile) rs1935508894
NM_000444.6(PHEX):c.1965+3del
NM_000444.6(PHEX):c.1966-8_2006dup
NM_000444.6(PHEX):c.1967C>A (p.Ala656Asp)
NM_000444.6(PHEX):c.1973_1984dup (p.Arg658_Ile661dup) rs1935547603
NM_000444.6(PHEX):c.1981A>G (p.Ile661Val)
NM_000444.6(PHEX):c.2005_2016del (p.Glu669_Leu672del) rs1602412679
NM_000444.6(PHEX):c.2018T>C (p.Leu673Pro)
NM_000444.6(PHEX):c.2021C>A (p.Pro674Gln)
NM_000444.6(PHEX):c.2040C>A (p.Asn680Lys) rs1556151526
NM_000444.6(PHEX):c.2050TTC[1] (p.Phe685del) rs1935552095
NM_000444.6(PHEX):c.2050_2055del (p.Phe684_Phe685del) rs1935552095
NM_000444.6(PHEX):c.2057T>C (p.Leu686Pro) rs1935552635
NM_000444.6(PHEX):c.2066C>G (p.Ala689Gly)
NM_000444.6(PHEX):c.2070+5G>C rs1057517797
NM_000444.6(PHEX):c.2084C>G (p.Ser695Cys) rs1020905350
NM_000444.6(PHEX):c.2084C>T (p.Ser695Phe)
NM_000444.6(PHEX):c.2096A>T (p.Glu699Val) rs2147214010
NM_000444.6(PHEX):c.2098G>A (p.Ala700Thr)
NM_000444.6(PHEX):c.2207A>G (p.Asn736Ser)
NM_000444.6(PHEX):c.2214G>T (p.Thr738=)
NM_000444.6(PHEX):c.2214_2234del (p.Met739_Ser745del) rs2147217365
NM_000444.6(PHEX):c.2246G>C (p.Trp749Ser) rs1936441227

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.