List of variants in gene MAK reported as likely pathogenic for retinal disorder

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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: 25

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HGVS	dbSNP	gnomAD frequency
NM_001242957.3(MAK):c.1356_1357del (p.Glu454fs)	rs762837543	0.00002
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.718_719del (p.Gln240fs)	rs1039053911	0.00001
NM_001242957.3(MAK):c.7C>T (p.Arg3Ter)	rs558628181	0.00001
NM_001242957.3(MAK):c.814C>T (p.Arg272Ter)	rs753314164	0.00001
NM_001242957.3(MAK):c.832-1G>C	rs780978066	0.00001
NC_000006.11:g.(10804125_10809042)_(10809176_10813876)del
NM_001242957.3(MAK):c.104T>A (p.Met35Lys)
NM_001242957.3(MAK):c.1087_1088del (p.Gln364fs)	rs1196153507
NM_001242957.3(MAK):c.1143+2_1143+3del	rs2127548040
NM_001242957.3(MAK):c.1143dup (p.Lys382Ter)	rs1581697849
NM_001242957.3(MAK):c.1223A>T (p.Glu408Val)
NM_001242957.3(MAK):c.156+2T>C	rs1201940872
NM_001242957.3(MAK):c.168del (p.Lys56fs)
NM_001242957.3(MAK):c.1700_1703del (p.Asn567fs)	rs1347914291
NM_001242957.3(MAK):c.340dup (p.Ala114fs)	rs527236082
NM_001242957.3(MAK):c.366dup (p.His123fs)	rs1776708973
NM_001242957.3(MAK):c.368A>G (p.His123Arg)
NM_001242957.3(MAK):c.393dup (p.Leu132fs)
NM_001242957.3(MAK):c.79G>A (p.Gly27Arg)	rs754916169
NM_001242957.3(MAK):c.97A>C (p.Lys33Gln)

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