ClinVar Miner

List of variants reported as benign for Epilepsy, progressive myoclonic 7 by Invitae

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Total variants: 8
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NM_001112741.1(KCNC1):c.1017A>C (p.Arg339=) rs137989254
NM_001112741.1(KCNC1):c.1236C>T (p.Ser412=) rs73424033
NM_001112741.1(KCNC1):c.1287C>A (p.Ala429=) rs139804857
NM_001112741.1(KCNC1):c.72G>A (p.Ser24=) rs76929858
NM_001112741.1(KCNC1):c.744C>T (p.Ile248=) rs2229007
NM_001112741.1(KCNC1):c.933C>T (p.Arg311=) rs76882721
NM_001112741.2(KCNC1):c.1451A>G (p.Gln484Arg) rs770586397
NM_001112741.2(KCNC1):c.717C>T (p.Ala239=) rs143670270

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