ClinVar Miner

List of variants in gene FKRP reported as pathogenic for not provided

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Gene type:
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Total variants: 22
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HGVS dbSNP
NM_024301.5(FKRP):c.1141del (p.Ala381fs) rs754403441
NM_024301.5(FKRP):c.1256_1257del (p.Pro419fs) rs886043959
NM_024301.5(FKRP):c.1267del (p.Arg423fs) rs886044083
NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter) rs772950604
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) rs28937903
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110
NM_024301.5(FKRP):c.1394A>C (p.Tyr465Ser) rs1057520772
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr) rs1301397800
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) rs104894682
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) rs886042506
NM_024301.5(FKRP):c.1A>G (p.Met1Val) rs587777223
NM_024301.5(FKRP):c.264C>A (p.Tyr88Ter) rs1057520771
NM_024301.5(FKRP):c.264C>G (p.Tyr88Ter)
NM_024301.5(FKRP):c.313C>T (p.Gln105Ter) rs761821795
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) rs543163491
NM_024301.5(FKRP):c.675del (p.Thr226fs) rs886043706
NM_024301.5(FKRP):c.740del (p.Pro247fs) rs1568418845
NM_024301.5(FKRP):c.77G>A (p.Trp26Ter) rs752731569
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900
NM_024301.5(FKRP):c.941C>T (p.Thr314Met) rs398124395
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter) rs886044183

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