ClinVar Miner

List of variants studied for Hyperprolinemia

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003748.3(ALDH4A1):c.-73C>T rs559524012 0.00167
NM_003748.3(ALDH4A1):c.-39G>T rs112566606 0.00010
NM_003748.3(ALDH4A1):c.-65G>C rs878956441 0.00003
NM_003748.3(ALDH4A1):c.-37C>A rs886045708 0.00002
NM_003748.3(ALDH4A1):c.-174dup rs551988232
NM_003748.4(ALDH4A1):c.*12del rs774289867
NM_003748.4(ALDH4A1):c.*657del rs11311839

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