List of variants in gene SMARCAL1 reported as pathogenic by Natera, Inc.

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)	rs119473033	0.00013
NM_014140.4(SMARCAL1):c.2070+2dup	rs762716070	0.00009
NM_014140.4(SMARCAL1):c.1190del (p.Leu397fs)	rs766291662	0.00006
NM_014140.4(SMARCAL1):c.863-2A>G	rs761546902	0.00004
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His)	rs200666300	0.00002
NM_014140.4(SMARCAL1):c.1191del (p.Thr399fs)	rs956223874	0.00001
NM_014140.4(SMARCAL1):c.49C>T (p.Arg17Ter)	rs119473034	0.00001
NM_014140.4(SMARCAL1):c.1000C>T (p.Arg334Ter)	rs758888999

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