List of variants studied for Developmental and epileptic encephalopathy, 42 by Solve-RD Consortium

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)	rs121908217
NM_001127222.2(CACNA1A):c.1862del (p.Phe621fs)
NM_001127222.2(CACNA1A):c.3882+2T>C	rs2057168559
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln)	rs121908230
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	rs121908247

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