ClinVar Miner

List of variants in gene combination PHEX, PTCHD1 reported by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.2070+325C>T rs5904628 0.38025
NM_000444.6(PHEX):c.1769-173T>C rs3752432 0.37792
NM_000444.6(PHEX):c.2147+195T>C rs2071584 0.37149
NM_000444.6(PHEX):c.1700+175dup rs11416169 0.36527
NM_000444.6(PHEX):c.1769-10C>T rs3752433 0.33899
NM_000444.6(PHEX):c.1899+304T>C rs5951517 0.33355
NM_000444.6(PHEX):c.1701-341T>G rs2285074 0.32458
NM_000444.6(PHEX):c.2148-179A>T rs5951738 0.14069
NM_000444.6(PHEX):c.2148-302A>G rs967195 0.11560
NM_000444.6(PHEX):c.1966-11T>C rs12014792 0.09259
NM_000444.6(PHEX):c.1701-207A>G rs28453897 0.05642
NM_000444.6(PHEX):c.1966-302C>T rs16981873 0.03629
NM_000444.6(PHEX):c.1899+91G>A rs141574844 0.01947
NM_000444.6(PHEX):c.1700+264C>T rs143761086 0.01822
NM_000444.6(PHEX):c.2148-335C>T rs145741977 0.01383
NM_000444.6(PHEX):c.1900-211G>A rs16981867 0.01069
NM_000444.6(PHEX):c.*218A>C rs141594056 0.00645
NM_000444.6(PHEX):c.2147+170A>G rs147560997 0.00637
NM_000444.6(PHEX):c.2148-48T>G rs186950858 0.00469
NM_000444.6(PHEX):c.1966-36G>A rs149937313 0.00458
NM_000444.6(PHEX):c.2015T>C (p.Leu672Pro) rs896575405 0.00001
NM_000444.6(PHEX):c.1646-265A>G rs5904512
NM_000444.6(PHEX):c.1658G>A (p.Gly553Glu) rs1064794306
NM_000444.6(PHEX):c.1660G>T (p.Glu554Ter) rs1064797001
NM_000444.6(PHEX):c.1685dup (p.Thr563fs) rs886041837
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000444.6(PHEX):c.1700+1G>T rs1057520582
NM_000444.6(PHEX):c.1700G>C (p.Arg567Pro) rs760870713
NM_000444.6(PHEX):c.1701-2A>G rs886041683
NM_000444.6(PHEX):c.1706dup (p.Ser570fs) rs1556135252
NM_000444.6(PHEX):c.1713T>G (p.Tyr571Ter) rs886041762
NM_000444.6(PHEX):c.1714G>A (p.Gly572Ser) rs1064795106
NM_000444.6(PHEX):c.1715G>A (p.Gly572Asp) rs1057517795
NM_000444.6(PHEX):c.1715G>T (p.Gly572Val) rs1057517795
NM_000444.6(PHEX):c.1717G>C (p.Ala573Pro) rs1057520756
NM_000444.6(PHEX):c.1719dup (p.Ile574fs) rs1556135320
NM_000444.6(PHEX):c.1723G>A (p.Gly575Arg) rs1131692029
NM_000444.6(PHEX):c.1727_1738del (p.Val576_His580delinsAsp) rs1057517979
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.1736G>A (p.Gly579Glu) rs1057517980
NM_000444.6(PHEX):c.1736G>T (p.Gly579Val) rs1057517980
NM_000444.6(PHEX):c.1739A>G (p.His580Arg) rs1057521800
NM_000444.6(PHEX):c.1765_1768del (p.Asn589fs) rs1064794305
NM_000444.6(PHEX):c.1768+1G>C rs886041296
NM_000444.6(PHEX):c.1768+2del rs1064793918
NM_000444.6(PHEX):c.1768+2dup rs1057517796
NM_000444.6(PHEX):c.1768+5G>T rs1057524608
NM_000444.6(PHEX):c.1769-1G>C rs1602405079
NM_000444.6(PHEX):c.1779T>G (p.Tyr593Ter) rs1935269189
NM_000444.6(PHEX):c.1779_1782dup (p.Lys595Ter) rs886041364
NM_000444.6(PHEX):c.1800dup (p.Pro601fs) rs886041726
NM_000444.6(PHEX):c.1805G>A (p.Trp602Ter) rs1569431986
NM_000444.6(PHEX):c.1806G>A (p.Trp602Ter) rs886041365
NM_000444.6(PHEX):c.1809G>A (p.Trp603Ter) rs755686699
NM_000444.6(PHEX):c.1828_1829dup (p.Phe611fs) rs886041763
NM_000444.6(PHEX):c.1828_1832dup (p.Phe611fs) rs1131691645
NM_000444.6(PHEX):c.1843dup (p.Thr615fs) rs886041366
NM_000444.6(PHEX):c.1854_1857dup (p.Asn620delinsAspTer) rs886041367
NM_000444.6(PHEX):c.1866T>C (p.Tyr622=) rs375441152
NM_000444.6(PHEX):c.1875T>G (p.Tyr625Ter) rs1400504292
NM_000444.6(PHEX):c.1880G>A (p.Trp627Ter) rs1085307584
NM_000444.6(PHEX):c.1900-121_1900-120insATGA rs386416729
NM_000444.6(PHEX):c.1900-122_1900-119dup rs35486190
NM_000444.6(PHEX):c.1900-1G>A rs755406730
NM_000444.6(PHEX):c.1900-20del rs68100043
NM_000444.6(PHEX):c.1900-232A>G rs5904627
NM_000444.6(PHEX):c.1900-38G>T rs141696848
NM_000444.6(PHEX):c.1935_1938dup (p.Asn647Ter) rs886041269
NM_000444.6(PHEX):c.1936_1939dup (p.Asn647delinsArgTer) rs886041368
NM_000444.6(PHEX):c.1961_1963delinsCT (p.Phe654fs) rs1064796436
NM_000444.6(PHEX):c.1966-1G>C rs1064795147
NM_000444.6(PHEX):c.1966_1969dup (p.Tyr657fs) rs1556151046
NM_000444.6(PHEX):c.1979G>A (p.Trp660Ter) rs886041369
NM_000444.6(PHEX):c.1989_1990del (p.Asp663fs) rs886041371
NM_000444.6(PHEX):c.2018T>C (p.Leu673Pro)
NM_000444.6(PHEX):c.2028_2032dup (p.Phe678fs) rs1057518246
NM_000444.6(PHEX):c.2048_2051dup (p.Phe685fs) rs886041840
NM_000444.6(PHEX):c.2060_2063dup (p.Tyr688Ter) rs886041372
NM_000444.6(PHEX):c.2061T>G (p.Ser687Arg) rs1064794849
NM_000444.6(PHEX):c.2064T>A (p.Tyr688Ter) rs886041373
NM_000444.6(PHEX):c.2070+1G>A rs1057518596
NM_000444.6(PHEX):c.2070+251_2070+254dup rs3838957
NM_000444.6(PHEX):c.2070+317G>A rs3795242
NM_000444.6(PHEX):c.2070+5G>C rs1057517797
NM_000444.6(PHEX):c.2071-1G>A rs886041374
NM_000444.6(PHEX):c.2071-4C>G rs1556200956
NM_000444.6(PHEX):c.2071-5T>A rs1556200942
NM_000444.6(PHEX):c.2071-5_2071-4delinsAG rs1556200949
NM_000444.6(PHEX):c.2077T>C (p.Cys693Arg) rs1064794999
NM_000444.6(PHEX):c.2079C>G (p.Cys693Trp) rs1064796845
NM_000444.6(PHEX):c.2096A>T (p.Glu699Val) rs2147214010
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter) rs886041226
NM_000444.6(PHEX):c.2118_2119del (p.Gln706fs) rs1064796540
NM_000444.6(PHEX):c.2138del (p.Pro713fs) rs886041375
NM_000444.6(PHEX):c.2138dup (p.Gln714fs) rs886041375
NM_000444.6(PHEX):c.2147+1G>A rs886041768
NM_000444.6(PHEX):c.2147+2_2147+9del rs1064796434
NM_000444.6(PHEX):c.2159C>A (p.Ala720Glu) rs1057517798
NM_000444.6(PHEX):c.2171_2172del (p.Asn723_Phe724insTer) rs1556205980
NM_000444.6(PHEX):c.2193del (p.Phe731fs) rs886041631
NM_000444.6(PHEX):c.2197T>C (p.Cys733Arg) rs1064794150
NM_000444.6(PHEX):c.2198G>A (p.Cys733Tyr) rs1057517981
NM_000444.6(PHEX):c.2237G>T (p.Cys746Phe) rs1057517799
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) rs886041227
NM_000444.6(PHEX):c.2244_2245del (p.Trp749fs) rs1057517800

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