List of variants in gene SMARCE1 studied for Coffin-Siris syndrome 5

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_003079.5(SMARCE1):c.955G>A (p.Val319Ile)	rs140414666	0.00015
NM_003079.5(SMARCE1):c.767A>G (p.Lys256Arg)	rs542193901	0.00010
NM_003079.5(SMARCE1):c.1006G>A (p.Glu336Lys)	rs377136485	0.00004
NM_003079.5(SMARCE1):c.412G>A (p.Ala138Thr)	rs771308672	0.00004
NM_003079.5(SMARCE1):c.1009A>T (p.Asn337Tyr)	rs2037085057
NM_003079.5(SMARCE1):c.1036C>A (p.His346Asn)	rs751700497
NM_003079.5(SMARCE1):c.218A>C (p.Tyr73Ser)	rs387906857
NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys)	rs387906857
NM_003079.5(SMARCE1):c.237+1G>T	rs1426841589
NM_003079.5(SMARCE1):c.276G>C (p.Lys92Asn)	rs1555605795
NM_003079.5(SMARCE1):c.370-10T>C	rs763801620
NM_003079.5(SMARCE1):c.63C>T (p.Ser21=)	rs1597749796
NM_003079.5(SMARCE1):c.772A>G (p.Lys258Glu)

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