List of variants studied for central nervous system malformation by Undiagnosed Diseases Network, NIH

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)	rs199504211	0.00069
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)	rs138249161	0.00031
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)	rs146539065	0.00004
NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter)	rs267608688	0.00003
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)	rs772887102	0.00003
NM_002547.3(OPHN1):c.1361G>A (p.Arg454Lys)	rs1602169116
NM_004958.4(MTOR):c.5930C>T (p.Thr1977Ile)	rs587777893
NM_005559.4(LAMA1):c.1706G>C (p.Trp569Ser)	rs1254270535
NM_005559.4(LAMA1):c.5407C>T (p.Gln1803Ter)	rs1568019012
NM_005559.4(LAMA1):c.9197del (p.Phe3066fs)	rs1555640521
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)	rs1057519925
NM_013265.4(VPS51):c.1878+42G>A
NM_016955.5(SEPSECS):c.808dup	rs776969714
NM_018082.6(POLR3B):c.2084-3092_2294-553del
NM_020320.5(RARS2):c.1612del (p.Thr538fs)	rs781417096

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