ClinVar Miner

List of variants reported as benign for cobblestone lissencephaly by Athena Diagnostics Inc

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_006731.2(FKTN):c.1026C>A (p.Leu342=) rs17309806
NM_006731.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_007171.3(POMT1):c.1113C>T (p.Asp371=) rs3739494
NM_007171.3(POMT1):c.1299C>A (p.Asp433Glu) rs11243406
NM_007171.3(POMT1):c.1341A>G (p.Glu447=) rs62620174
NM_007171.3(POMT1):c.752G>A (p.Arg251Gln) rs2296949
NM_007171.3(POMT1):c.942C>T (p.Thr314=) rs10901065
NM_007171.3(POMT1):c.979G>A (p.Val327Ile) rs4740164
NM_024301.5(FKRP):c.192C>T (p.Pro64=) rs111754012
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578

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