ClinVar Miner

List of variants in gene SMN1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000344.4(SMN1):c.*3+80T>G rs143838139 0.08111
NM_000344.4(SMN1):c.835-8C>A rs200146682 0.00036
NM_000344.4(SMN1):c.864G>T (p.Arg288Ser) rs368899583 0.00014
NM_000344.4(SMN1):c.*1G>A rs763144752 0.00010
NM_000344.4(SMN1):c.865T>A (p.Cys289Ser) rs187925143 0.00007
NM_000344.4(SMN1):c.835-33T>G rs1335244738 0.00001
NM_000344.4(SMN1):c.835-3C>T rs772466166 0.00001
NM_000344.4(SMN1):c.*10C>A rs1749796858
NM_000344.4(SMN1):c.*2G>C rs1286965446
NM_000344.4(SMN1):c.*3+1G>A rs1290417835
NM_000344.4(SMN1):c.*3+1G>C rs1290417835
NM_000344.4(SMN1):c.*3+4_*3+7del
NM_000344.4(SMN1):c.*4G>A rs1749796463
NM_000344.4(SMN1):c.*6A>G rs1749796591
NM_000344.4(SMN1):c.835-13A>G rs1561503068
NM_000344.4(SMN1):c.835-13A>T rs1561503068
NM_000344.4(SMN1):c.835-13del rs1561503075
NM_000344.4(SMN1):c.835-14T>A rs370146091
NM_000344.4(SMN1):c.835-15T>G rs1554082375
NM_000344.4(SMN1):c.835-17C>G rs1749768663
NM_000344.4(SMN1):c.835-17C>T rs1749768663
NM_000344.4(SMN1):c.835-18C>T rs1554082373
NM_000344.4(SMN1):c.835-19T>A rs1749768312
NM_000344.4(SMN1):c.835-1G>A rs1217001154
NM_000344.4(SMN1):c.835-21C>A rs1292776799
NM_000344.4(SMN1):c.835-24T>A rs748758067
NM_000344.4(SMN1):c.835-24T>G rs748758067
NM_000344.4(SMN1):c.835-24del rs555928635
NM_000344.4(SMN1):c.835-28T>C rs1554082369
NM_000344.4(SMN1):c.835-29T>G rs1554082368
NM_000344.4(SMN1):c.835-2A>G rs141760116
NM_000344.4(SMN1):c.835-2A>T rs141760116
NM_000344.4(SMN1):c.835-31T>G rs1749767005
NM_000344.4(SMN1):c.836G>A (p.Gly279Asp) rs76163360
NM_000344.4(SMN1):c.837T>C (p.Gly279=) rs1561503108
NM_000344.4(SMN1):c.840C>G (p.Phe280Leu) rs1164325688
NM_000344.4(SMN1):c.841A>C (p.Arg281=) rs1482083567
NM_000344.4(SMN1):c.842G>C (p.Arg281Thr) rs1561503124
NM_000344.4(SMN1):c.847A>C (p.Asn283His) rs1561503132
NM_000344.4(SMN1):c.855dup (p.Glu286fs) rs1554082383
NM_000344.4(SMN1):c.861_864del (p.Arg288fs)
NM_000344.4(SMN1):c.883T>G (p.Ter295Glu) rs1749775863

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