List of variants in gene SMN1 reported as uncertain significance by Athena Diagnostics 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000344.4(SMN1):c.835-3C>T	rs772466166	0.00001
NM_000344.4(SMN1):c.223G>A (p.Ala75Thr)
NM_000344.4(SMN1):c.242A>T (p.Gln81Leu)	rs1580886807
NM_000344.4(SMN1):c.419A>T (p.Asp140Val)	rs1554081968
NM_000344.4(SMN1):c.490C>A (p.Gln164Lys)	rs1561499713
NM_000344.4(SMN1):c.618A>G (p.Gly206=)
NM_000344.4(SMN1):c.708T>G (p.Phe236Leu)
NM_000344.4(SMN1):c.803A>G (p.Tyr268Cys)	rs1554082113
NM_000344.4(SMN1):c.818A>T (p.His273Leu)	rs1554082114
NM_000344.4(SMN1):c.855_858del (p.Arg288fs)	rs1475940018
NM_000344.4(SMN1):c.873T>A (p.His291Gln)	rs1561503207

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