List of variants reported as likely pathogenic for Spinal muscular atrophy with congenital bone fractures 2

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001198800.3(ASCC1):c.583C>T (p.Gln195Ter)	rs769501930	0.00001
NM_001198800.3(ASCC1):c.626+1G>A	rs747595523	0.00001
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs)	rs753324947
NM_001198800.3(ASCC1):c.213-8T>G
NM_001198800.3(ASCC1):c.380_381del (p.Phe127fs)
NM_001198800.3(ASCC1):c.626+2T>A

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