List of variants in gene FKTN reported as benign for muscular dystrophy-dystroglycanopathy, type A

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: 31

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HGVS	dbSNP	gnomAD frequency
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=)	rs17309806	0.27837
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)	rs34787999	0.25357
NM_001079802.2(FKTN):c.*5618T>A	rs1048215	0.12282
NM_001079802.2(FKTN):c.*786T>G	rs10978177	0.12279
NM_001079802.2(FKTN):c.*1133A>G	rs2768282	0.12157
NM_001079802.2(FKTN):c.*2280T>C	rs1024366	0.12115
NM_001079802.2(FKTN):c.*5260G>T	rs2010861	0.11975
NM_001079802.2(FKTN):c.*5041G>A	rs1854124	0.11478
NM_001079802.2(FKTN):c.*5062G>A	rs1854125	0.07482
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser)	rs34006675	0.03359
NM_001079802.2(FKTN):c.*3778T>C	rs79831528	0.02904
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys)	rs41277797	0.02093
NM_001079802.2(FKTN):c.*2298C>G	rs116107812	0.01491
NM_001079802.2(FKTN):c.*5517T>C	rs114655654	0.01215
NM_001079802.2(FKTN):c.42G>A (p.Thr14=)	rs78794935	0.01002
NM_001079802.2(FKTN):c.106-10G>A	rs148384394	0.01000
NM_001079802.2(FKTN):c.*1638A>G	rs78462952	0.00980
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp)	rs41313301	0.00809
NM_001079802.2(FKTN):c.166-6A>G	rs41277795	0.00808
NM_001079802.2(FKTN):c.910+14G>A	rs76180538	0.00806
NM_001079802.2(FKTN):c.648-1278A>C	rs181901044	0.00425
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile)	rs116105846	0.00224
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)	rs146951171	0.00218
NM_001079802.2(FKTN):c.166-4A>G	rs193922689	0.00125
NM_001079802.2(FKTN):c.*1843A>T	rs117283748	0.00026
NM_001079802.2(FKTN):c.910+13C>T	rs375259473	0.00026
NM_001079802.2(FKTN):c.1172+13T>C	rs768792475	0.00009
NM_001079802.2(FKTN):c.*4388del	rs148253503
NM_001079802.2(FKTN):c.*806G>C	rs75971372
NM_001079802.2(FKTN):c.-45G>T	rs77013649
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=)	rs146967918

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