ClinVar Miner

List of variants studied for hyperprolinemia type 2 by 3billion

Included ClinVar conditions (1):
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003748.4(ALDH4A1):c.490G>C (p.Ala164Pro) rs369957092 0.00007
NM_003748.4(ALDH4A1):c.139C>T (p.Arg47Ter) rs756807746 0.00001
NM_003748.4(ALDH4A1):c.72del (p.Arg23_Trp24insTer) rs2100593635

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