List of variants in gene MAPT reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001377265.1(MAPT):c.1857A>G (p.Ala619=)	rs1052553	0.14782
NM_001377265.1(MAPT):c.1941T>C (p.Asn647=)	rs17652121	0.14693
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.-13A>G	rs17650901	0.14470
NM_001377265.1(MAPT):c.1704G>A (p.Pro568=)	rs1052551	0.12440
NM_001377265.1(MAPT):c.1986G>A (p.Pro662=)	rs11568305	0.03866
NM_001377265.1(MAPT):c.1708G>A (p.Ala570Thr)	rs63750612	0.01528
NM_001377265.1(MAPT):c.2091+29G>A	rs63751443	0.00213
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser)	rs150983093	0.00038
NM_001377265.1(MAPT):c.1326C>T (p.Pro442=)	rs201312701	0.00017
NM_001377265.1(MAPT):c.220+2477C>G	rs375470008	0.00004
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp)	rs63750424	0.00002
NM_001377265.1(MAPT):c.220+2432G>A	rs992572864	0.00001
NM_001377265.1(MAPT):c.220+2538C>G	rs368845248	0.00001
NM_001377265.1(MAPT):c.2120T>G (p.Leu707Arg)	rs63749855

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