List of variants in gene P3H1 reported as uncertain significance for Osteogenesis Imperfecta, Recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 47

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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_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_022356.4(P3H1):c.1135G>A (p.Ala379Thr)	rs762013462	0.00003
NM_022356.4(P3H1):c.1686C>T (p.Ser562=)	rs747701845	0.00003
NM_022356.4(P3H1):c.1620C>T (p.Asn540=)	rs140334418	0.00002
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_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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