List of variants in gene SMARCAL1 reported as uncertain significance by Eurofins NTD LLC (GA)

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: 30

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HGVS	dbSNP	gnomAD frequency
NM_014140.4(SMARCAL1):c.2528+5G>C	rs145908212	0.00131
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.962G>A (p.Gly321Asp)	rs148752234	0.00047
NM_014140.4(SMARCAL1):c.2765T>C (p.Met922Thr)	rs200431186	0.00039
NM_014140.4(SMARCAL1):c.1427G>A (p.Arg476Gln)	rs142164846	0.00035
NM_014140.4(SMARCAL1):c.2427+9C>T	rs201601053	0.00024
NM_014140.4(SMARCAL1):c.1001G>A (p.Arg334Gln)	rs138575228	0.00022
NM_014140.4(SMARCAL1):c.1786G>A (p.Ala596Thr)	rs143100109	0.00010
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.927C>T (p.Ser309=)	rs139949668	0.00006
NM_014140.4(SMARCAL1):c.1496G>A (p.Arg499Gln)	rs145264115	0.00003
NM_014140.4(SMARCAL1):c.2529-4A>G	rs886042978	0.00003
NM_014140.4(SMARCAL1):c.2778G>A (p.Leu926=)	rs373335368	0.00002
NM_014140.4(SMARCAL1):c.1485+10C>T	rs886042157	0.00001
NM_014140.4(SMARCAL1):c.2321C>T (p.Ser774Leu)	rs149425324	0.00001
NM_014140.4(SMARCAL1):c.506A>G (p.Lys169Arg)	rs777999697	0.00001
NM_014140.4(SMARCAL1):c.675G>A (p.Lys225=)	rs751534116	0.00001
NM_014140.4(SMARCAL1):c.1128G>A (p.Leu376=)	rs794727801
NM_014140.4(SMARCAL1):c.114G>T (p.Ser38=)	rs374642503
NM_014140.4(SMARCAL1):c.1762G>A (p.Ala588Thr)	rs769553029
NM_014140.4(SMARCAL1):c.1775C>G (p.Thr592Arg)	rs199876834
NM_014140.4(SMARCAL1):c.2201A>G (p.His734Arg)	rs886043438
NM_014140.4(SMARCAL1):c.2449C>A (p.Arg817Ser)	rs794727171
NM_014140.4(SMARCAL1):c.2745T>C (p.Ser915=)	rs886044051
NM_014140.4(SMARCAL1):c.340C>G (p.Arg114Gly)	rs202031614
NM_014140.4(SMARCAL1):c.527C>G (p.Thr176Arg)	rs747775289
NM_014140.4(SMARCAL1):c.810T>C (p.Tyr270=)	rs886043060

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