ClinVar Miner

List of variants studied for bone disorder by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001177316.2(SLC34A3):c.586G>A (p.Gly196Arg) rs121918237 0.00007
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_000052.7(ATP7A):c.1172G>C (p.Cys391Ser) rs1557231883 0.00002
NM_001177316.2(SLC34A3):c.1335+2T>A rs752222200 0.00002
NM_000168.6(GLI3):c.1999C>T (p.Arg667Ter) rs781422192 0.00001
NM_003937.3(KYNU):c.1282C>T (p.Arg428Trp) rs147475752 0.00001
NM_003937.3(KYNU):c.326G>C (p.Trp109Ser) rs780720490 0.00001
NM_003937.3(KYNU):c.989G>A (p.Arg330Gln) rs142934146 0.00001
NM_004247.4(EFTUD2):c.1117A>G (p.Ile373Val) rs376454994 0.00001
NM_022095.4(ZNF335):c.1748C>T (p.Thr583Met) rs754454176 0.00001
NC_000002.12:g.142877008_142961693del
NM_000067.3(CA2):c.275A>C (p.Gln92Pro) rs1304160279
NM_000088.4(COL1A1):c.1614+1G>A rs72648357
NM_000088.4(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser) rs72656370
NM_000135.4(FANCA):c.1165G>T (p.Val389Leu) rs1402841866
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000142.5(FGFR3):c.1619A>C (p.Asn540Thr) rs77722678
NM_000168.6(GLI3):c.1133dup (p.Pro379fs) rs2128732074
NM_000168.6(GLI3):c.1793dup (p.Asn598fs) rs2128712235
NM_000168.6(GLI3):c.3667_3670delinsATCAA (p.Tyr1223fs) rs2128705420
NM_000168.6(GLI3):c.4172del (p.Gly1391fs) rs2128705042
NM_000168.6(GLI3):c.650C>G (p.Ser217Ter) rs2128742651
NM_000488.4(SERPINC1):c.679G>T (p.Glu227Ter) rs1572089542
NM_001011658.4(TRAPPC2):c.-19G>T rs2518644633
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) rs121912876
NM_001844.5(COL2A1):c.970-6T>C rs2540165736
NM_002834.5(PTPN11):c.1546_1547insCTATCTATA (p.Tyr515_Met516insThrIleTyr) rs2540465831
NM_004247.4(EFTUD2):c.423del (p.Lys142fs) rs2508834526
NM_004380.3(CREBBP):c.6116dup (p.Ile2040fs)
NM_005032.7(PLS3):c.1512-1G>T rs2147590595
NM_016648.4(LARP7):c.834dup (p.Arg279fs) rs763929099
NM_016648.4(LARP7):c.931_950del (p.Lys311fs) rs757874580
NM_020297.4(ABCC9):c.3461G>A (p.Arg1154Gln) rs387907209
NM_020436.5(SALL4):c.3058del (p.Gln1020fs) rs2515708636
NM_022095.4(ZNF335):c.1471G>C (p.Asp491His) rs754669594
NM_022455.5(NSD1):c.5149G>A (p.Gly1717Ser) rs1562278357
NM_022552.5(DNMT3A):c.2177G>T (p.Gly726Val) rs1432383727
NM_024408.4(NOTCH2):c.7090del (p.Gln2364fs) rs1649037695
NM_031263.4(HNRNPK):c.1040_1041del (p.Ser347fs) rs2491962567
NM_031263.4(HNRNPK):c.1048_1051del (p.Asp350fs) rs2491962345
NM_031263.4(HNRNPK):c.402+1G>A rs2491990498
NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter) rs121912950
NM_080680.3(COL11A2):c.4280A>G (p.Glu1427Gly) rs2534532651
NM_133368.3(RSPRY1):c.358G>T (p.Glu120Ter) rs2545852484

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