ClinVar Miner

List of variants in gene LOC100506321, MAX studied for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Total variants: 10
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HGVS dbSNP
NC_000014.9:g.(?_65093702)_(65102345_?)del
NM_002382.5(MAX):c.102A>G (p.Lys34=) rs1060503836
NM_002382.5(MAX):c.120del (p.Asp41fs) rs1595166895
NM_002382.5(MAX):c.133A>G (p.Ser45Gly) rs780865640
NM_002382.5(MAX):c.138G>C (p.Leu46Phe) rs1595166865
NM_002382.5(MAX):c.171+4A>G
NM_002382.5(MAX):c.171+6T>C rs1060500098
NM_002382.5(MAX):c.71A>G (p.Lys24Arg)
NM_002382.5(MAX):c.87T>C (p.Asn29=) rs771488967
NM_002382.5(MAX):c.97C>T (p.Arg33Ter) rs387906651

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