ClinVar Miner

List of variants studied for bone remodeling disease by Mendelics

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_000376.3(VDR):c.2T>C (p.Met1Thr) rs2228570 0.66221
NM_004407.4(DMP1):c.205A>T (p.Ser69Cys) rs10019009 0.29735
NM_000127.3(EXT1):c.1065C>T (p.Cys355=) rs11546829 0.23625
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063 0.02817
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val) rs35910969 0.01664
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu) rs139525250 0.00236
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe) rs140639805 0.00216
NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His) rs138872455 0.00215
NM_152424.4(AMER1):c.85G>A (p.Ala29Thr) rs138399473 0.00183
NM_152424.4(AMER1):c.401A>C (p.His134Pro) rs146489129 0.00149
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser) rs148072630 0.00148
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met) rs138495222 0.00063
NM_207122.2(EXT2):c.260T>G (p.Met87Arg) rs140075817 0.00031
NM_000376.3(VDR):c.217C>T (p.Arg73Ter) rs980041568 0.00004
NM_000376.3(VDR):c.218G>A (p.Arg73Gln) rs121909791 0.00004
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp) rs202164519 0.00004
NM_000127.3(EXT1):c.2072G>A (p.Arg691His) rs746678682 0.00002
NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys) rs767480544 0.00001
NM_001177316.2(SLC34A3):c.940G>A (p.Ala314Thr) rs1332288437 0.00001
NM_002546.4(TNFRSF11B):c.997C>T (p.Arg333Ter) rs1307942060 0.00001
NM_000088.4(COL1A1):c.1192G>C (p.Gly398Arg) rs72648319
NM_000088.4(COL1A1):c.1733G>A (p.Gly578Asp) rs2144569208
NM_000088.4(COL1A1):c.2633G>C (p.Gly878Ala) rs2144551547
NM_000088.4(COL1A1):c.608G>A (p.Gly203Asp) rs72667031
NM_000088.4(COL1A1):c.814G>T (p.Gly272Cys) rs72645331
NM_000088.4(COL1A1):c.887G>T (p.Gly296Val) rs1567761800
NM_000127.3(EXT1):c.2143A>G (p.Met715Val) rs1225915837
NM_000127.3(EXT1):c.962+3_962+6del rs1586279285
NM_000376.3(VDR):c.702C>A (p.Val234=)
NM_000396.4(CTSK):c.826C>T (p.His276Tyr) rs1571123333
NM_000396.4(CTSK):c.83dup (p.Trp29fs) rs2101954034
NM_000444.6(PHEX):c.101del (p.Gly34fs) rs1602241023
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys) rs1556026033
NM_000444.6(PHEX):c.1042A>T (p.Lys348Ter) rs773436322
NM_000444.6(PHEX):c.1044del (p.Asp349fs) rs1556026042
NM_000444.6(PHEX):c.1046A>G (p.Asp349Gly) rs2147047501
NM_000444.6(PHEX):c.1102T>C (p.Trp368Arg) rs1602303865
NM_000444.6(PHEX):c.1157G>A (p.Trp386Ter) rs1602304005
NM_000444.6(PHEX):c.1173+1G>A rs1064793227
NM_000444.6(PHEX):c.1174-1G>A rs2147065556
NM_000444.6(PHEX):c.1208G>A (p.Trp403Ter) rs1602307078
NM_000444.6(PHEX):c.1215del (p.Lys405fs) rs1602307094
NM_000444.6(PHEX):c.1217G>A (p.Cys406Tyr) rs1602307107
NM_000444.6(PHEX):c.1266del (p.Phe422fs) rs2147065739
NM_000444.6(PHEX):c.1302+2T>A rs2147065825
NM_000444.6(PHEX):c.1309G>T (p.Glu437Ter) rs1341755128
NM_000444.6(PHEX):c.1324del (p.Val442fs) rs1602324484
NM_000444.6(PHEX):c.1331G>A (p.Trp444Ter) rs2147086395
NM_000444.6(PHEX):c.1402A>T (p.Lys468Ter) rs1602324630
NM_000444.6(PHEX):c.1404+1G>C rs2147086611
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) rs375593493
NM_000444.6(PHEX):c.1425del (p.Val476fs) rs1602354302
NM_000444.6(PHEX):c.1482dup (p.Ile495fs) rs2147118855
NM_000444.6(PHEX):c.1496_1497insTCA (p.Glu499delinsAspGln) rs1602363343
NM_000444.6(PHEX):c.1515_1532del (p.Asn505_Arg510del) rs2147128134
NM_000444.6(PHEX):c.1586+2T>G rs1057518377
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.1586+5G>A rs1602363550
NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu) rs886041363
NM_000444.6(PHEX):c.1646-2A>C rs2147164011
NM_000444.6(PHEX):c.1646-2A>G rs2147164011
NM_000444.6(PHEX):c.1646G>C (p.Arg549Pro) rs1602395717
NM_000444.6(PHEX):c.1706T>C (p.Leu569Pro) rs1556135242
NM_000444.6(PHEX):c.1714G>T (p.Gly572Cys) rs1064795106
NM_000444.6(PHEX):c.1718C>T (p.Ala573Val) rs1556135308
NM_000444.6(PHEX):c.1718del (p.Ala573fs) rs2147171155
NM_000444.6(PHEX):c.1741G>T (p.Glu581Ter) rs1602402229
NM_000444.6(PHEX):c.1750C>T (p.His584Tyr) rs1602402258
NM_000444.6(PHEX):c.1768+1G>A rs886041296
NM_000444.6(PHEX):c.1769-1G>A rs1602405079
NM_000444.6(PHEX):c.1769-1G>C rs1602405079
NM_000444.6(PHEX):c.1769-1G>T rs1602405079
NM_000444.6(PHEX):c.1775_1778dup (p.Tyr593Ter) rs1556138407
NM_000444.6(PHEX):c.1779T>A (p.Tyr593Ter) rs1935269189
NM_000444.6(PHEX):c.1809dup (p.Ser604fs) rs1602405176
NM_000444.6(PHEX):c.1825G>T (p.Glu609Ter) rs1602405239
NM_000444.6(PHEX):c.1840A>T (p.Lys614Ter) rs2147174526
NM_000444.6(PHEX):c.1854_1857dup (p.Asn620delinsAspTer) rs886041367
NM_000444.6(PHEX):c.1859_1862dup (p.Tyr622fs) rs2147174569
NM_000444.6(PHEX):c.185dup (p.Ala63fs) rs1602244836
NM_000444.6(PHEX):c.1862A>C (p.Gln621Pro) rs1602405293
NM_000444.6(PHEX):c.187+1G>C rs1556012100
NM_000444.6(PHEX):c.188-1G>C rs1927567325
NM_000444.6(PHEX):c.1899+1G>A rs1556138769
NM_000444.6(PHEX):c.1899+2T>G rs1602405375
NM_000444.6(PHEX):c.1951_1962dup (p.Glu652_Arg655dup) rs1602411514
NM_000444.6(PHEX):c.1986_1989dup (p.Arg664Ter) rs1556151137
NM_000444.6(PHEX):c.2005_2016del (p.Glu669_Leu672del) rs1602412679
NM_000444.6(PHEX):c.200T>A (p.Leu67Ter) rs2146987638
NM_000444.6(PHEX):c.2060_2063dup (p.Tyr688Ter) rs886041372
NM_000444.6(PHEX):c.2071-1G>C rs886041374
NM_000444.6(PHEX):c.2078G>C (p.Cys693Ser) rs1556200989
NM_000444.6(PHEX):c.2079C>G (p.Cys693Trp) rs1064796845
NM_000444.6(PHEX):c.2092_2096del (p.Pro698fs) rs2147213985
NM_000444.6(PHEX):c.20_21del (p.Ser7fs) rs1602240926
NM_000444.6(PHEX):c.2125del (p.Ala709fs) rs1602439597
NM_000444.6(PHEX):c.2132G>T (p.Ser711Ile) rs2147214114
NM_000444.6(PHEX):c.2133T>G (p.Ser711Arg) rs1602439611
NM_000444.6(PHEX):c.2139del (p.Gln714fs) rs2147214136
NM_000444.6(PHEX):c.2147+2T>G rs1602439662
NM_000444.6(PHEX):c.2198G>T (p.Cys733Phe) rs1057517981
NM_000444.6(PHEX):c.2236T>C (p.Cys746Arg) rs1602442819
NM_000444.6(PHEX):c.2249A>G (p.Ter750Trp) rs1602442871
NM_000444.6(PHEX):c.254G>C (p.Cys85Ser) rs137853269
NM_000444.6(PHEX):c.254G>T (p.Cys85Phe) rs137853269
NM_000444.6(PHEX):c.305G>T (p.Gly102Val) rs2146987874
NM_000444.6(PHEX):c.349+1G>A rs193922459
NM_000444.6(PHEX):c.367_370del (p.Ile123fs) rs1602273769
NM_000444.6(PHEX):c.37_38del (p.Lys13fs) rs2146974254
NM_000444.6(PHEX):c.3G>A (p.Met1Ile) rs1926865530
NM_000444.6(PHEX):c.421T>C (p.Ser141Pro) rs2147019252
NM_000444.6(PHEX):c.422C>T (p.Ser141Phe) rs1602273900
NM_000444.6(PHEX):c.436+4A>T rs1057520344
NM_000444.6(PHEX):c.436+5G>T rs1602273945
NM_000444.6(PHEX):c.460A>T (p.Lys154Ter) rs1929202828
NM_000444.6(PHEX):c.468del (p.Leu157fs) rs2147020412
NM_000444.6(PHEX):c.535del (p.Val179fs) rs2147020604
NM_000444.6(PHEX):c.540G>A (p.Trp180Ter) rs1602274883
NM_000444.6(PHEX):c.559del (p.Leu187fs) rs1602274893
NM_000444.6(PHEX):c.582del (p.Arg195fs) rs1602274929
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818
NM_000444.6(PHEX):c.593del (p.Tyr198fs) rs1602274950
NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter) rs771208171
NM_000444.6(PHEX):c.663G>A (p.Lys221=) rs1929220357
NM_000444.6(PHEX):c.664-1G>T rs886041529
NM_000444.6(PHEX):c.673del (p.Ala225fs) rs2147035468
NM_000444.6(PHEX):c.705C>A (p.Tyr235Ter) rs2147035526
NM_000444.6(PHEX):c.732+3_732+6del rs2147035589
NM_000444.6(PHEX):c.733-1G>C rs886041223
NM_000444.6(PHEX):c.7_8dup (p.Glu4fs) rs1602240890
NM_000444.6(PHEX):c.849_849+2del rs1602288211
NM_000444.6(PHEX):c.865G>T (p.Glu289Ter) rs1602290398
NM_000444.6(PHEX):c.933+2T>A rs2147043777
NM_000444.6(PHEX):c.934-1G>T rs1602292528
NM_000444.6(PHEX):c.955AAG[1] (p.Lys320del) rs1556025968
NM_000444.6(PHEX):c.961G>T (p.Val321Phe) rs1556025976
NM_000444.6(PHEX):c.985del (p.His329fs) rs1556025994
NM_000785.4(CYP27B1):c.252_262del (p.Thr85fs) rs2140397692
NM_001177316.2(SLC34A3):c.1058G>T (p.Arg353Leu) rs121918234
NM_001177316.2(SLC34A3):c.1217G>T (p.Gly406Val) rs139408872
NM_001287.6(CLCN7):c.1562G>C (p.Gly521Ala) rs1261991162
NM_001287.6(CLCN7):c.2066del (p.Lys689fs) rs2142366092
NM_005032.7(PLS3):c.514del (p.Leu172fs) rs1603241972
NM_006019.4(TCIRG1):c.504-6C>A rs1028394725
NM_014028.4(OSTM1):c.486del (p.Phe162fs) rs1582396088
NM_017460.6(CYP3A4):c.902T>C (p.Ile301Thr) rs1815413655
NM_020832.3(ZNF687):c.2810C>A (p.Pro937His) rs148402804
NM_152424.4(AMER1):c.1384del (p.Glu462fs) rs1602067633

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