List of variants reported as uncertain significance for ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome by Baylor Genetics

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_005559.4(LAMA1):c.8253G>A (p.Leu2751=)	rs139713073	0.00271
NM_005559.4(LAMA1):c.1792G>C (p.Glu598Gln)	rs116690149	0.00185
NM_005559.4(LAMA1):c.1619C>T (p.Pro540Leu)	rs140908403	0.00041
NM_005559.4(LAMA1):c.3687+4A>C	rs7226848	0.00039
NM_005559.4(LAMA1):c.7187G>A (p.Arg2396Gln)	rs200776408	0.00038
NM_005559.4(LAMA1):c.3745G>A (p.Val1249Ile)	rs148225763	0.00026
NM_005559.4(LAMA1):c.4204C>T (p.Pro1402Ser)	rs202133880	0.00025
NM_005559.4(LAMA1):c.7181G>A (p.Arg2394Gln)	rs140792199	0.00024
NM_005559.4(LAMA1):c.371T>C (p.Ile124Thr)	rs200657079	0.00021
NM_005559.4(LAMA1):c.6779C>A (p.Ser2260Tyr)	rs146652610	0.00017
NM_005559.4(LAMA1):c.2524C>T (p.Pro842Ser)	rs149208354	0.00011
NM_005559.4(LAMA1):c.3256G>A (p.Asp1086Asn)	rs201831309	0.00010
NM_005559.4(LAMA1):c.8263A>G (p.Met2755Val)	rs373014487	0.00005
NM_005559.4(LAMA1):c.6050C>T (p.Ser2017Phe)	rs778208901	0.00004
NM_005559.4(LAMA1):c.1846G>A (p.Gly616Arg)	rs146460281	0.00003
NM_005559.4(LAMA1):c.4555G>C (p.Gly1519Arg)	rs747710308	0.00003
NM_005559.4(LAMA1):c.7213G>A (p.Asp2405Asn)	rs371549771	0.00003
NM_005559.4(LAMA1):c.5584A>G (p.Arg1862Gly)	rs773614520	0.00002
NM_005559.4(LAMA1):c.7124C>T (p.Thr2375Ile)	rs533138285	0.00002
NM_005559.4(LAMA1):c.1211C>A (p.Ser404Tyr)	rs1474952115	0.00001
NM_005559.4(LAMA1):c.1862C>T (p.Thr621Ile)	rs1372291355	0.00001
NM_005559.4(LAMA1):c.2274+3G>T	rs1346412853	0.00001
NM_005559.4(LAMA1):c.2856C>G (p.Asn952Lys)	rs576734629	0.00001
NM_005559.4(LAMA1):c.3191A>C (p.Gln1064Pro)	rs535850595	0.00001
NM_005559.4(LAMA1):c.5660+5G>T	rs767853385	0.00001
NM_005559.4(LAMA1):c.3364-4G>T	rs2057863581
NM_005559.4(LAMA1):c.5726T>C (p.Ile1909Thr)	rs199766289
NM_005559.4(LAMA1):c.6029A>G (p.Lys2010Arg)	rs2057692609
NM_005559.4(LAMA1):c.6557C>A (p.Ser2186Tyr)	rs1261229691

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