ClinVar Miner

List of variants reported as likely pathogenic for Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 by Fulgent Genetics, Fulgent Genetics

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) rs758759348 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_024301.5(FKRP):c.1129C>T (p.Gln377Ter)
NM_024301.5(FKRP):c.1130_1139del (p.Gln377fs)
NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro) rs140217866
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter) rs104894680
NM_024301.5(FKRP):c.1208dup (p.Arg404fs)
NM_024301.5(FKRP):c.1210C>T (p.Arg404Cys)
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) rs886042506
NM_024301.5(FKRP):c.265C>T (p.Pro89Ser)
NM_024301.5(FKRP):c.2T>C (p.Met1Thr)
NM_024301.5(FKRP):c.501_502delinsCC (p.Arg167_Cys168delinsSerArg) rs2122616718
NM_024301.5(FKRP):c.540_570dup (p.Cys191fs) rs1311148380
NM_024301.5(FKRP):c.884_885del (p.Arg295fs)
NM_024301.5(FKRP):c.899T>A (p.Val300Glu)
NM_024301.5(FKRP):c.927C>A (p.Tyr309Ter)
NM_024301.5(FKRP):c.949del (p.Cys317fs)
NM_024301.5(FKRP):c.984del (p.Arg327_Tyr328insTer)

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