List of variants in gene SMARCAL1 reported as likely pathogenic by Invitae

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: 22

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HGVS	dbSNP	gnomAD frequency
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile)	rs200644381	0.00019
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser)	rs775057827	0.00006
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp)	rs1480919035	0.00001
NC_000002.11:g.(?_217285012)_(217315797_?)dup
NC_000002.11:g.(?_217311721)_(217311901_?)del
NC_000002.11:g.(?_217311731)_(217311891_?)del
NM_014140.4(SMARCAL1):c.1146_1147+2del	rs1574450161
NM_014140.4(SMARCAL1):c.1147+1G>A
NM_014140.4(SMARCAL1):c.1147+2T>G
NM_014140.4(SMARCAL1):c.1334+1G>A
NM_014140.4(SMARCAL1):c.1402G>C (p.Ala468Pro)	rs1693994454
NM_014140.4(SMARCAL1):c.1485+1G>A	rs772028268
NM_014140.4(SMARCAL1):c.1644+1G>T	rs1694062061
NM_014140.4(SMARCAL1):c.1645-2A>G	rs2106040403
NM_014140.4(SMARCAL1):c.1645-2A>T
NM_014140.4(SMARCAL1):c.1710+2T>C
NM_014140.4(SMARCAL1):c.1711-2A>C
NM_014140.4(SMARCAL1):c.1851+1G>A
NM_014140.4(SMARCAL1):c.2141+1G>A	rs1694789584
NM_014140.4(SMARCAL1):c.2244+1G>A
NM_014140.4(SMARCAL1):c.2427+1G>A	rs1559138455
NM_014140.4(SMARCAL1):c.812-2A>G

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