ClinVar Miner

List of variants studied for heterotaxy, visceral, 6, autosomal by Baylor Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_145020.5(CFAP53):c.1411C>T (p.Arg471Ter) rs202140882 0.00003
NM_145020.5(CFAP53):c.553G>A (p.Ala185Thr)
NM_145020.5(CFAP53):c.877C>T (p.Gln293Ter) rs897584290

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