ClinVar Miner

List of variants studied for Heterotaxy, visceral, 7, autosomal by Revvity Omics, Revvity

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ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) rs145119918 0.00016
NM_147191.1(MMP21):c.1517T>C (p.Ile506Thr) rs532423524 0.00003
NM_147191.1(MMP21):c.240dup (p.Lys81fs) rs886041273

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