ClinVar Miner

List of variants studied for multiple intestinal atresia by Baylor Genetics

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_020458.4(TTC7A):c.1189G>A (p.Val397Ile) rs146284515 0.00011
NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys) rs147914967 0.00003
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro) rs201100272 0.00002
NM_020458.4(TTC7A):c.1919+869C>T rs1230826905 0.00001
NM_020458.4(TTC7A):c.2105G>A (p.Gly702Asp) rs780527277 0.00001
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val) rs755985958 0.00001

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