ClinVar Miner

List of variants reported as uncertain significance for Osteogenesis Imperfecta, Recessive by Illumina Laboratory Services, Illumina

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_022356.4(P3H1):c.*77C>T rs13871 0.06035
NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg) rs6700677 0.06024
NM_022356.4(P3H1):c.1647G>A (p.Met549Ile) rs11581921 0.05897
NM_022356.4(P3H1):c.139G>T (p.Ala47Ser) rs55716016 0.04262
NM_022356.4(P3H1):c.1284C>T (p.Ile428=) rs61746642 0.01592
NM_022356.4(P3H1):c.1026C>T (p.Ala342=) rs61100157 0.01581
NM_022356.4(P3H1):c.1569+3A>G rs76871760 0.01579
NM_022356.4(P3H1):c.1812C>T (p.Pro604=) rs34809608 0.01577
NM_022356.4(P3H1):c.978C>T (p.Thr326=) rs74070022 0.01251
NM_022356.4(P3H1):c.1233G>A (p.Arg411=) rs61746653 0.01103
NM_022356.4(P3H1):c.611C>A (p.Pro204His) rs77208721 0.00751
NM_022356.4(P3H1):c.-45C>T rs183564323 0.00663
NM_022356.4(P3H1):c.1473+5G>T rs114044880 0.00294
NM_022356.4(P3H1):c.*262C>T rs41303415 0.00257
NM_022356.4(P3H1):c.1501C>T (p.Arg501Trp) rs115108794 0.00209
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg) rs139259804 0.00103
NM_022356.4(P3H1):c.-57G>T rs190782130 0.00089
NM_022356.4(P3H1):c.1806A>C (p.Lys602Asn) rs144336336 0.00066
NM_006129.4(BMP1):c.-126G>A rs527604798 0.00057
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala) rs533729683 0.00038
NM_022356.4(P3H1):c.1660C>T (p.Arg554Cys) rs138860050 0.00033
NM_022356.4(P3H1):c.1720+4G>A rs371232413 0.00031
NM_022356.4(P3H1):c.693G>A (p.Ala231=) rs149113630 0.00027
NM_022356.4(P3H1):c.1428C>T (p.Gly476=) rs141786883 0.00022
NM_022356.4(P3H1):c.1838+5G>T rs377368053 0.00022
NM_022356.4(P3H1):c.619-11C>T rs202219307 0.00019
NM_022356.4(P3H1):c.1429G>A (p.Val477Ile) rs201170161 0.00009
NM_022356.4(P3H1):c.327C>T (p.Phe109=) rs370773974 0.00009
NM_022356.4(P3H1):c.1626G>A (p.Thr542=) rs577059613 0.00007
NM_022356.4(P3H1):c.81G>C (p.Glu27Asp) rs201750444 0.00007
NM_022356.4(P3H1):c.*116C>T rs746036609 0.00005
NM_022356.4(P3H1):c.2100A>G (p.Pro700=) rs372711844 0.00005
NM_006371.5(CRTAP):c.*1315C>T rs886058358 0.00004
NM_006371.5(CRTAP):c.*67C>A rs886058346 0.00003
NM_022356.4(P3H1):c.1135G>A (p.Ala379Thr) rs762013462 0.00003
NM_022356.4(P3H1):c.1686C>T (p.Ser562=) rs747701845 0.00003
NM_021939.4(FKBP10):c.1016G>A (p.Arg339Gln) rs782216438 0.00002
NM_022356.4(P3H1):c.1620C>T (p.Asn540=) rs140334418 0.00002
NM_002615.6(SERPINF1):c.-154C>T rs541151948 0.00001
NM_002615.7(SERPINF1):c.1226T>C (p.Ile409Thr) rs369156271 0.00001
NM_006371.5(CRTAP):c.*5216G>A rs553161393 0.00001
NM_022356.3(P3H1):c.-106G>A rs1190692389 0.00001
NM_022356.4(P3H1):c.-29C>G rs1043265003 0.00001
NM_022356.4(P3H1):c.1086C>T (p.Ala362=) rs777090883 0.00001
NM_022356.4(P3H1):c.599T>G (p.Leu200Arg) rs747865105 0.00001
NM_022356.4(P3H1):c.874C>T (p.Arg292Ter) rs773269078 0.00001
NM_000942.5(PPIB):c.*189dup rs397748288
NM_000942.5(PPIB):c.*201_*202dup rs5813282
NM_001173467.3(SP7):c.*408CTT[1] rs552600157
NM_001173467.3(SP7):c.-47-15dup rs886049660
NM_001199.3(BMP1):c.-263_-260GGAG[4] rs750344454
NM_001235.5(SERPINH1):c.346C>A (p.Arg116Ser) rs200265134
NM_002615.7(SERPINF1):c.134C>T (p.Pro45Leu) rs886052646
NM_002615.7(SERPINF1):c.587C>T (p.Thr196Ile) rs1804148
NM_006371.5(CRTAP):c.*1032del rs766461937
NM_006371.5(CRTAP):c.*3593_*3596del rs374340147
NM_006371.5(CRTAP):c.*4137TAC[1] rs564250948
NM_006371.5(CRTAP):c.*4457dup rs57153345
NM_006371.5(CRTAP):c.*470_*471del rs556534357
NM_006371.5(CRTAP):c.*4783_*4786del rs886058374
NM_021939.4(FKBP10):c.*363CTTT[1] rs886052924
NM_021939.4(FKBP10):c.*421_*422inv
NM_022356.3(P3H1):c.-95A>G rs1653060930
NM_022356.4(P3H1):c.1081-6C>T rs1652366135
NM_022356.4(P3H1):c.1170+14C>T rs1483515684
NM_022356.4(P3H1):c.1525C>A (p.Pro509Thr) rs1652148302
NM_022356.4(P3H1):c.1915G>T (p.Ala639Ser) rs750377534
NM_022356.4(P3H1):c.2055+13C>A rs76628300
NM_022356.4(P3H1):c.69G>A (p.Glu23=) rs1237398609
NM_022356.4(P3H1):c.808+5G>A rs368972030

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