ClinVar Miner

List of variants studied for hyperprolinemia type 2 by Baylor Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003748.4(ALDH4A1):c.874A>C (p.Lys292Gln) rs746880995 0.00001
NM_003748.4(ALDH4A1):c.416G>T (p.Arg139Leu) rs368241243
NM_003748.4(ALDH4A1):c.484G>A (p.Ala162Thr)
NM_003748.4(ALDH4A1):c.866+1G>A rs78532707

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