List of variants reported as likely benign for Schimke immuno-osseous dysplasia by Natera, Inc.

Minimum submission review status:		Collection method:
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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met)	rs139872089	0.00129
NM_014140.4(SMARCAL1):c.1851+5G>A	rs2066514	0.00122
NM_014140.4(SMARCAL1):c.863-9C>G	rs188833040	0.00063
NM_014140.4(SMARCAL1):c.124A>G (p.Ile42Val)	rs199905841	0.00059
NM_014140.4(SMARCAL1):c.2765T>C (p.Met922Thr)	rs200431186	0.00039
NM_014140.4(SMARCAL1):c.2641A>C (p.Lys881Gln)	rs190386780	0.00037
NM_014140.4(SMARCAL1):c.1296C>T (p.Leu432=)	rs151159565	0.00030
NM_014140.4(SMARCAL1):c.2427+9C>T	rs201601053	0.00024
NM_014140.4(SMARCAL1):c.1443C>T (p.Leu481=)	rs751122020	0.00012
NM_014140.4(SMARCAL1):c.1776G>A (p.Thr592=)	rs372995559	0.00011
NM_014140.4(SMARCAL1):c.1533C>T (p.Val511=)	rs142314193	0.00010
NM_014140.4(SMARCAL1):c.117C>T (p.Gly39=)	rs565316605	0.00009
NM_014140.4(SMARCAL1):c.2322G>A (p.Ser774=)	rs139445683	0.00009
NM_014140.4(SMARCAL1):c.2340C>T (p.Ala780=)	rs780778758	0.00007
NM_014140.4(SMARCAL1):c.1299G>A (p.Val433=)	rs773940970	0.00006
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=)	rs139949668	0.00006
NM_014140.4(SMARCAL1):c.1147+8G>A	rs759562755	0.00004
NM_014140.4(SMARCAL1):c.1440G>A (p.Pro480=)	rs367557310	0.00004
NM_014140.4(SMARCAL1):c.426G>A (p.Glu142=)	rs767158204	0.00003
NM_014140.4(SMARCAL1):c.2532C>T (p.Pro844=)	rs747379387	0.00002
NM_014140.4(SMARCAL1):c.2245-10G>T	rs759266842	0.00001
NM_014140.4(SMARCAL1):c.258T>G (p.Pro86=)	rs763888223	0.00001
NM_014140.4(SMARCAL1):c.2787C>T (p.Ser929=)	rs755396021	0.00001
NM_014140.4(SMARCAL1):c.675G>A (p.Lys225=)	rs751534116	0.00001
NM_014140.4(SMARCAL1):c.2556T>C (p.Val852=)	rs1574485907
NM_014140.4(SMARCAL1):c.2853G>A (p.Thr951=)	rs200632025

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