List of variants in gene MAK reported as likely pathogenic for Retinitis pigmentosa

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001242957.3(MAK):c.485C>T (p.Thr162Ile)	rs774229391	0.00002
NM_001242957.3(MAK):c.101+1G>A	rs1300819259	0.00001
NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter)	rs186643840	0.00001
NM_001242957.3(MAK):c.496C>T (p.Arg166Cys)	rs527236081	0.00001
NM_001242957.3(MAK):c.553G>A (p.Ala185Thr)	rs527236080	0.00001
NM_001242957.3(MAK):c.814C>T (p.Arg272Ter)	rs753314164	0.00001
NC_000006.11:g.(10804125_10809042)_(10809176_10813876)del
NM_001242957.3(MAK):c.1087_1088del (p.Gln364fs)	rs1196153507
NM_001242957.3(MAK):c.1143dup (p.Lys382Ter)	rs1581697849
NM_001242957.3(MAK):c.340dup (p.Ala114fs)	rs527236082
NM_001242957.3(MAK):c.393dup (p.Leu132fs)

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