ClinVar Miner

List of variants in gene MAPT reported as benign by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Gene type:
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Total variants: 17
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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.1941T>C (p.Asn647=) rs17652121 0.14693
NM_001377265.1(MAPT):c.1091T>C (p.Val364Ala) rs62063787 0.14671
NM_001377265.1(MAPT):c.220+2535A>G rs1800547 0.14618
NM_001377265.1(MAPT):c.220+18C>T rs75242405 0.14617
NM_001377265.1(MAPT):c.1857A>G (p.Ala619=) rs1052553 0.12790
NM_001377265.1(MAPT):c.1078G>A (p.Asp360Asn) rs62063786 0.12772
NM_001377265.1(MAPT):c.830C>T (p.Pro277Leu) rs63750417 0.12767
NM_001377265.1(MAPT):c.1564T>C (p.Ser522Pro) rs10445337 0.12766
NM_001377265.1(MAPT):c.1732+2342T>C rs62063845 0.12765
NM_001377265.1(MAPT):c.1704G>A (p.Pro568=) rs1052551 0.12440
NM_001377265.1(MAPT):c.1333C>T (p.Arg445Trp) rs17651549 0.12421
NM_001377265.1(MAPT):c.1080C>T (p.Asp360=) rs63750222 0.11265
NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg) rs63750072 0.03830
NM_001377265.1(MAPT):c.1986G>A (p.Pro662=) rs11568305 0.03713
NM_001377265.1(MAPT):c.1708G>A (p.Ala570Thr) rs63750612 0.01415
NM_001377265.1(MAPT):c.220+2432G>A

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