List of variants in gene SMN1 reported as uncertain significance for anterior horn disorder

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000344.4(SMN1):c.864G>T (p.Arg288Ser)	rs368899583	0.00014
NM_000344.4(SMN1):c.865T>A (p.Cys289Ser)	rs187925143	0.00007
NM_000344.4(SMN1):c.662C>T (p.Pro221Leu)	rs1336155324	0.00006
NM_000344.4(SMN1):c.*3+1G>A	rs1290417835
NM_000344.4(SMN1):c.278A>C (p.Lys93Thr)	rs1580886828
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.841A>G (p.Arg281Gly)
NM_000344.4(SMN1):c.855_858del (p.Arg288fs)	rs1475940018
NM_000344.4(SMN1):c.861_864del (p.Arg288fs)
NM_000344.4(SMN1):c.862A>G (p.Arg288Gly)
NM_000344.4(SMN1):c.862A>T (p.Arg288Trp)
NM_000344.4(SMN1):c.885A>G (p.Ter295=)

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