ClinVar Miner

List of variants in gene MAPT reported by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.1546T>C (p.Tyr516His) rs2258689 0.21570
NM_001377265.1(MAPT):c.1732+2342T>C rs62063845 0.14662
NM_001377265.1(MAPT):c.1986G>A (p.Pro662=) rs11568305 0.03866
NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg) rs63750072 0.03830
NM_001377265.1(MAPT):c.862G>A (p.Gly288Arg) rs76375268 0.01093
NM_001377265.1(MAPT):c.2091+29G>A rs63751443 0.00213

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