ClinVar Miner

List of variants in gene FKRP reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 24
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HGVS dbSNP
NM_024301.4(FKRP):c.1027G>C (p.Glu343Gln) rs587780334
NM_024301.4(FKRP):c.1140G>A (p.Gly380=) rs552260353
NM_024301.4(FKRP):c.1177G>A (p.Val393Ile) rs140679502
NM_024301.4(FKRP):c.1190C>T (p.Ala397Val) rs767570224
NM_024301.4(FKRP):c.11C>G (p.Thr4Ser) rs771333733
NM_024301.4(FKRP):c.135C>T (p.Ala45=) rs2287717
NM_024301.4(FKRP):c.1387A>G (p.Asn463Asp) rs121908110
NM_024301.4(FKRP):c.1440C>T (p.Asn480=) rs115365212
NM_024301.4(FKRP):c.1486T>A (p.Ter496Arg) rs104894682
NM_024301.4(FKRP):c.192C>T (p.Pro64=) rs111754012
NM_024301.4(FKRP):c.235G>A (p.Val79Met) rs104894683
NM_024301.4(FKRP):c.249C>T (p.Ala83=) rs149030303
NM_024301.4(FKRP):c.341C>G (p.Ala114Gly) rs143793528
NM_024301.4(FKRP):c.426G>T (p.Glu142Asp) rs797045575
NM_024301.4(FKRP):c.427C>A (p.Arg143Ser) rs148206382
NM_024301.4(FKRP):c.456C>G (p.Ser152Arg) rs199714523
NM_024301.4(FKRP):c.483C>T (p.Ala161=) rs797045576
NM_024301.4(FKRP):c.563C>T (p.Ala188Val) rs768762059
NM_024301.4(FKRP):c.585C>T (p.Asp195=) rs75079578
NM_024301.4(FKRP):c.699G>A (p.Val233=) rs764527541
NM_024301.4(FKRP):c.731G>A (p.Arg244His) rs764641619
NM_024301.4(FKRP):c.822C>G (p.Ile274Met) rs77138370
NM_024301.4(FKRP):c.826C>A (p.Leu276Ile) rs28937900
NM_024301.4(FKRP):c.898G>A (p.Val300Met) rs563033008

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