ClinVar Miner

List of variants reported as likely pathogenic for Multiple gastrointestinal atresias

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro) rs201100272 0.00002
NM_020458.4(TTC7A):c.2018-1G>C rs948534045 0.00002
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val) rs755985958 0.00001
NM_020458.4(TTC7A):c.1287+1del rs2104457522
NM_020458.4(TTC7A):c.1919+1G>C rs751311194
NM_020458.4(TTC7A):c.2368_2369insCGCC (p.Ser790fs) rs2103674254
NM_020458.4(TTC7A):c.2384dup (p.Ser796fs) rs1684975294
NM_020458.4(TTC7A):c.517+1G>C rs2104019844
NM_020458.4(TTC7A):c.518-914_588del rs1673619175
NM_020458.4(TTC7A):c.764+1G>T rs756396993
NM_020458.4(TTC7A):c.764+5G>A rs1180479579

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