List of variants reported as likely pathogenic for prenatal-onset spinal muscular atrophy with congenital bone fractures

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_016213.5(TRIP4):c.925C>T (p.Arg309Ter)	rs147303485	0.00006
NM_001198800.3(ASCC1):c.583C>T (p.Gln195Ter)	rs769501930	0.00001
NM_001198800.3(ASCC1):c.626+1G>A	rs747595523	0.00001
NM_016213.5(TRIP4):c.760C>T (p.Arg254Ter)	rs869312827	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
NM_016213.4:c.1359_1575del
NM_016213.5(TRIP4):c.1255C>T (p.Gln419Ter)	rs2140297426
NM_016213.5(TRIP4):c.336_339del (p.Gln113fs)	rs1900263561

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