ClinVar Miner

List of variants in gene APPL1 studied for monogenic diabetes

Included ClinVar conditions (61):
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_012096.3(APPL1):c.69A>G (p.Leu23=) rs11544592 0.01160
NM_012096.3(APPL1):c.1002C>G (p.Asp334Glu) rs61735096 0.01069
NM_012096.3(APPL1):c.256T>C (p.Leu86=) rs147166062 0.00501
NM_012096.3(APPL1):c.1262C>T (p.Pro421Leu) rs35776173 0.00300
NM_012096.3(APPL1):c.219T>C (p.Phe73=) rs150282222 0.00108
NM_012096.3(APPL1):c.107A>G (p.Tyr36Cys)
NM_012096.3(APPL1):c.1655T>A (p.Leu552Ter) rs869320673
NM_012096.3(APPL1):c.200A>G (p.Glu67Gly) rs141978531
NM_012096.3(APPL1):c.280G>A (p.Asp94Asn) rs796065047
NM_012096.3(APPL1):c.374-9C>T
NM_012096.3(APPL1):c.824G>A (p.Arg275Gln)

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