ClinVar Miner

List of variants reported as benign for Severe myoclonic epilepsy in infancy by Invitae

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001330723.2(SNX27):c.1155C>T (p.Val385=) rs115166911 0.00687
NM_001330723.2(SNX27):c.984T>C (p.Phe328=) rs150091333 0.00443
NM_001330723.2(SNX27):c.801+18T>A rs115780664 0.00365
NM_001330723.2(SNX27):c.18G>A (p.Gly6=) rs551180149 0.00236
NM_001330723.2(SNX27):c.986-20G>C rs199670160 0.00083
NM_001330723.2(SNX27):c.1389+17G>A rs185748265 0.00017
NM_001330723.2(SNX27):c.1329C>T (p.Ile443=) rs193058770 0.00010
NM_001330723.2(SNX27):c.1578+118G>A rs143574605 0.00002
NM_001330723.2(SNX27):c.1240-3del
NM_001330723.2(SNX27):c.1240-3dup rs61159507
NM_001330723.2(SNX27):c.1240-4_1240-3del rs61159507
NM_001330723.2(SNX27):c.1519-4dup rs540332829
NM_001330723.2(SNX27):c.60CGG[5] (p.Gly25dup) rs567208173
NM_001330723.2(SNX27):c.801+19del rs2102681542

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