List of variants reported as likely benign for abnormal mineralization disorder by Illumina Laboratory Services, Illumina

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 87

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HGVS	dbSNP	gnomAD frequency
NM_000376.3(VDR):c.*437C>G	rs11574119	0.03464
NM_000376.3(VDR):c.*562A>C	rs3858733	0.03190
NM_000376.3(VDR):c.*2974A>T	rs11574139	0.03175
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys)	rs28933977	0.02826
NM_006208.3(ENPP1):c.-10C>T	rs750410843	0.02463
NM_000376.3(VDR):c.*1281G>A	rs7967673	0.02377
NM_000376.3(VDR):c.*1242A>G	rs7954412	0.02375
NM_000376.3(VDR):c.*2827A>G	rs11574138	0.02365
NM_000785.4(CYP27B1):c.942G>A (p.Leu314=)	rs8176345	0.02124
NM_000376.3(VDR):c.*408T>C	rs112308011	0.01929
NM_024529.5(CDC73):c.*1267A>G	rs78218016	0.01764
NM_000376.3(VDR):c.*2593A>G	rs11168263	0.01497
NM_006208.3(ENPP1):c.2002G>A (p.Glu668Lys)	rs115371819	0.01496
NM_000376.3(VDR):c.*409G>A	rs11574118	0.01495
NM_000785.4(CYP27B1):c.*415G>A	rs8176351	0.01487
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val)	rs79079368	0.01455
NM_024529.5(CDC73):c.*580A>T	rs191600804	0.01264
NM_006208.3(ENPP1):c.*2076C>T	rs117531639	0.01090
NM_000388.4(CASR):c.2610G>A (p.Glu870=)	rs143738711	0.01002
NM_000444.6(PHEX):c.537T>A (p.Val179=)	rs137961493	0.00746
NM_020638.3(FGF23):c.*388G>A	rs13312795	0.00731
NM_000376.3(VDR):c.444C>T (p.Ser148=)	rs2229828	0.00638
NM_006208.3(ENPP1):c.*1122A>G	rs148507889	0.00539
NM_006208.3(ENPP1):c.*3176T>A	rs114333444	0.00525
NM_024529.5(CDC73):c.1185A>G (p.Gln395=)	rs116358657	0.00511
NM_006208.3(ENPP1):c.*1038T>A	rs79214335	0.00496
NM_024529.5(CDC73):c.*2304T>G	rs144363422	0.00424
NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr)	rs8192683	0.00299
NM_024529.5(CDC73):c.*2085G>C	rs150030810	0.00217
NM_024529.5(CDC73):c.*12C>A	rs193025205	0.00196
NM_024529.5(CDC73):c.*518A>G	rs190433473	0.00195
NM_004407.4(DMP1):c.639G>A (p.Glu213=)	rs116732769	0.00193
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=)	rs73541508	0.00178
NM_000388.4(CASR):c.748G>A (p.Glu250Lys)	rs62269092	0.00163
NM_006208.3(ENPP1):c.*3528C>T	rs557822175	0.00161
NM_000785.4(CYP27B1):c.*77G>A	rs8176350	0.00137
NM_024529.5(CDC73):c.-95G>A	rs143969598	0.00133
NM_006208.3(ENPP1):c.*1307T>G	rs189263683	0.00117
NM_006208.3(ENPP1):c.*4015G>A	rs531152298	0.00116
NM_006208.3(ENPP1):c.*804A>G	rs114078048	0.00098
NM_024529.5(CDC73):c.33C>T (p.Tyr11=)	rs150951102	0.00094
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)	rs115230894	0.00086
NM_004407.4(DMP1):c.724T>C (p.Ser242Pro)	rs147552663	0.00080
NM_000388.4(CASR):c.1285C>T (p.His429Tyr)	rs142818334	0.00073
NM_024529.5(CDC73):c.*3524A>G	rs548190260	0.00071
NM_024529.5(CDC73):c.1032T>G (p.Val344=)	rs148612206	0.00070
NM_000388.4(CASR):c.915C>A (p.Ile305=)	rs200528343	0.00051
NM_054027.6(ANKH):c.*2243C>T	rs531980160	0.00045
NM_000444.6(PHEX):c.2214G>A (p.Thr738=)	rs140742016	0.00035
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys)	rs76327999	0.00034
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln)	rs147859619	0.00030
NM_024529.5(CDC73):c.-10G>T	rs188082584	0.00024
NM_006208.3(ENPP1):c.*2698G>A	rs146550172	0.00023
NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn)	rs200239821	0.00021
NM_000388.4(CASR):c.*87C>T	rs202045621	0.00020
NM_000444.6(PHEX):c.1483-7T>C	rs369175587	0.00020
NM_000444.6(PHEX):c.631G>A (p.Asp211Asn)	rs370610267	0.00019
NM_020638.3(FGF23):c.*1398T>A	rs531815578	0.00019
NM_020638.3(FGF23):c.*998C>G	rs71583766	0.00017
NM_000388.4(CASR):c.573G>A (p.Glu191=)	rs141631116	0.00016
NM_000376.3(VDR):c.1206C>A (p.Arg402=)	rs2229829	0.00014
NM_000444.6(PHEX):c.2068C>A (p.His690Asn)	rs200733697	0.00014
NM_054027.6(ANKH):c.1115G>A (p.Arg372Gln)	rs544848340	0.00014
NM_024529.5(CDC73):c.*2427T>C	rs372585994	0.00013
NM_024529.5(CDC73):c.840G>A (p.Leu280=)	rs10921320	0.00012
NM_024529.5(CDC73):c.*2677G>A	rs192018514	0.00010
NM_000388.4(CASR):c.762T>C (p.His254=)	rs76438850	0.00006
NM_024529.5(CDC73):c.*1083A>T	rs367704451	0.00006
NM_024529.5(CDC73):c.1417+9C>T	rs769784756	0.00003
NM_024529.5(CDC73):c.1418-10C>G	rs768713729	0.00003
NM_000444.6(PHEX):c.*48G>A	rs765479131	0.00002
NM_020638.3(FGF23):c.249G>A (p.Val83=)	rs753676774	0.00002
NM_024529.5(CDC73):c.201G>A (p.Val67=)	rs752298916	0.00002
NM_006208.3(ENPP1):c.1791T>C (p.Asn597=)	rs548504035	0.00001
NM_020638.3(FGF23):c.138A>G (p.Thr46=)	rs368115734	0.00001
NM_024529.5(CDC73):c.*3063G>A	rs182545034	0.00001
NM_054027.6(ANKH):c.1304C>T (p.Ala435Val)	rs761698657	0.00001
NM_054027.6(ANKH):c.39G>C (p.Leu13=)	rs748751320	0.00001
NM_000388.4(CASR):c.-378del	rs537119483
NM_000388.4(CASR):c.1008G>C (p.Lys336Asn)	rs548403340
NM_000444.6(PHEX):c.653A>G (p.His218Arg)	rs774907553
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile)	rs141979823
NM_006208.3(ENPP1):c.*150G>A	rs571779819
NM_020638.3(FGF23):c.555G>C (p.Ser185=)	rs115283398
NM_024529.5(CDC73):c.*3641G>A	rs565579791
NM_024529.5(CDC73):c.*3786T>C	rs74130943
NM_024529.5(CDC73):c.*3808TTG[1]	rs143131672

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