ClinVar Miner

List of variants reported as likely pathogenic by Epi4K Consortium

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Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_005909.4(MAP1B):c.1594C>T (p.Gln532Ter) rs1554054880
NM_005909.4(MAP1B):c.3316C>T (p.Arg1106Ter) rs1554055106
NM_005909.4(MAP1B):c.818del (p.Leu274Cysfs) rs1554054827
NM_005909.4(MAP1B):c.907C>T (p.Arg303Ter) rs1554054831

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