ClinVar Miner

List of variants reported as benign for Walker-Warburg congenital muscular dystrophy by Invitae

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Total variants: 28
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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_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_024301.5(FKRP):c.192C>T (p.Pro64=) rs111754012 0.01474
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_001079802.2(FKTN):c.42G>A (p.Thr14=) rs78794935 0.01002
NM_001079802.2(FKTN):c.106-10G>A rs148384394 0.01000
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
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_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928 0.00330
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846 0.00224
NM_024301.5(FKRP):c.1440C>T (p.Asn480=) rs115365212 0.00213
NM_024301.5(FKRP):c.1179A>G (p.Val393=) rs145894568 0.00179
NM_024301.5(FKRP):c.567C>T (p.Pro189=) rs201454433 0.00144
NM_001079802.2(FKTN):c.166-4A>G rs193922689 0.00125
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_024301.5(FKRP):c.636G>A (p.Ala212=) rs370099812 0.00060
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.1023G>A (p.Pro341=) rs146967918
NM_024301.5(FKRP):c.1027G>C (p.Glu343Gln) rs587780334

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