ClinVar Miner

List of variants studied for prenatal-onset spinal muscular atrophy with congenital bone fractures

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_016213.5(TRIP4):c.1596G>A (p.Glu532=) rs7167612 0.87160
NM_016213.5(TRIP4):c.1044-25G>A rs2046356 0.74036
NM_016213.5(TRIP4):c.981C>T (p.Thr327=) rs115922345 0.00975
NM_001198800.3(ASCC1):c.107A>G (p.Tyr36Cys) rs145940742 0.00183
NM_001198800.3(ASCC1):c.869A>G (p.Asn290Ser) rs146370051 0.00135
NM_001198800.3(ASCC1):c.382C>T (p.Arg128Ter) rs183415577 0.00006
NM_016213.5(TRIP4):c.925C>T (p.Arg309Ter) rs147303485 0.00006
NM_016213.5(TRIP4):c.832C>T (p.Arg278Ter) rs761865592 0.00003
NM_001198800.3(ASCC1):c.328C>T (p.Arg110Ter) rs866050664 0.00002
NM_001198800.3(ASCC1):c.311-2A>G rs1281256224 0.00001
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.871+1G>A rs763845791 0.00001
NM_016213.5(TRIP4):c.760C>T (p.Arg254Ter) rs869312827 0.00001
NC_000010.10:g.(?_73970434)_(73973122_?)del
NC_000010.11:g.72138925_72163147del
NG_031890.1:g.(?_60461)_(94053_?)del
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs) rs753324947
NM_001198800.3(ASCC1):c.213-8T>G
NM_001198800.3(ASCC1):c.349C>T (p.Arg117Ter) rs746994660
NM_001198800.3(ASCC1):c.380_381del (p.Phe127fs)
NM_001198800.3(ASCC1):c.464_465del (p.Glu155fs)
NM_001198800.3(ASCC1):c.626+2T>A
NM_001198800.3(ASCC1):c.747-10A>G rs768398422
NM_001198800.3(ASCC1):c.784C>T (p.Gln262Ter) rs778054296
NM_001198800.3(ASCC1):c.79C>T (p.Gln27Ter)
NM_001198800.3(ASCC1):c.813G>A (p.Trp271Ter) rs1845791915
NM_001198800.3(ASCC1):c.829C>T (p.His277Tyr)
NM_001198800.3(ASCC1):c.943C>T (p.Arg315Ter) rs1389098934
NM_016213.4:c.1359_1575del
NM_016213.5(TRIP4):c.1255C>T (p.Gln419Ter) rs2140297426
NM_016213.5(TRIP4):c.135dup (p.Arg46fs)
NM_016213.5(TRIP4):c.239C>A (p.Ser80Ter)
NM_016213.5(TRIP4):c.265A>T (p.Lys89Ter)
NM_016213.5(TRIP4):c.336_339del (p.Gln113fs) rs1900263561
NM_016213.5(TRIP4):c.512G>A (p.Cys171Tyr) rs2140283605
NM_016213.5(TRIP4):c.890G>A (p.Trp297Ter) rs1891715888

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