List of variants in gene PSEN2 reported as likely benign for cardiomyopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000447.3(PSEN2):c.903G>T (p.Thr301=)	rs6426553	0.03334
NM_000447.3(PSEN2):c.708T>C (p.Ser236=)	rs61730652	0.03044
NM_000447.3(PSEN2):c.-338A>G	rs6665033	0.01457
NM_000447.3(PSEN2):c.441C>T (p.Ser147=)	rs114334281	0.01441
NM_000447.3(PSEN2):c.185G>A (p.Arg62His)	rs58973334	0.01433
NM_000447.3(PSEN2):c.*487G>C	rs7962	0.01294
NM_000447.3(PSEN2):c.756G>C (p.Ala252=)	rs147702142	0.00621
NM_000447.3(PSEN2):c.*405G>T	rs116807339	0.00524
NM_000447.3(PSEN2):c.1176C>T (p.Phe392=)	rs115652716	0.00524
NM_000447.3(PSEN2):c.861C>T (p.Pro287=)	rs75733498	0.00436
NM_000447.3(PSEN2):c.132T>A (p.Thr44=)	rs143227762	0.00413
NM_000447.3(PSEN2):c.162G>C (p.Glu54Asp)	rs146894466	0.00063
NM_000447.3(PSEN2):c.520A>G (p.Met174Val)	rs61757781	0.00031
NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg)	rs143501870	0.00018
NM_000447.3(PSEN2):c.886+16G>A	rs202005802	0.00014
NM_000447.3(PSEN2):c.639A>G (p.Ala213=)	rs555809980	0.00006
NM_000447.3(PSEN2):c.415G>A (p.Val139Met)	rs202178897	0.00003

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