ClinVar Miner

List of variants in gene PCCA reported as uncertain significance by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000282.4(PCCA):c.300+20G>T rs371217257 0.00012
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro) rs794727479 0.00001
NM_000282.4(PCCA):c.1136G>T (p.Gly379Val) rs794727087
NM_000282.4(PCCA):c.686T>A (p.Met229Lys) rs375628794

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