ClinVar Miner

List of variants in gene PAFAH1B1 studied for Subcortical band heterotopia

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Total variants: 3
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HGVS dbSNP
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter) rs121434489
NM_000430.4(PAFAH1B1):c.505T>C (p.Ser169Pro) rs121434484
NM_000430.4(PAFAH1B1):c.722G>C (p.Arg241Pro) rs121434488

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