ClinVar Miner

List of variants studied for Polycystic liver disease 3 with or without kidney cysts

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_024079.5(ALG8):c.1507A>G (p.Ile503Val) rs17856033 0.00041
NM_024079.5(ALG8):c.154A>G (p.Ile52Val) rs138293432 0.00019
NM_024079.5(ALG8):c.1038+1G>T rs202112771 0.00016
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00008
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter) rs762811727 0.00003
NM_024079.5(ALG8):c.1244_1245insAA (p.Tyr415Ter)
NM_024079.5(ALG8):c.1464del (p.Phe489fs)
NM_024079.5(ALG8):c.272del (p.Asn91fs) rs866578354
NM_024079.5(ALG8):c.544C>T (p.Gln182Ter) rs2497066474
NM_024079.5(ALG8):c.599A>G (p.His200Arg)
NM_024079.5(ALG8):c.710_719dup (p.Leu241fs) rs2136903056
NM_024079.5(ALG8):c.758T>C (p.Leu253Ser) rs2136902870
NM_024079.5(ALG8):c.828_829del (p.Cys277fs) rs2497001971

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