List of variants studied for cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_013245.3(VPS4A):c.1232T>C (p.Leu411Pro)	rs2544556060
NM_013245.3(VPS4A):c.282-1G>A	rs2544550582
NM_013245.3(VPS4A):c.538G>A (p.Val180Met)
NM_013245.3(VPS4A):c.605T>C (p.Leu202Pro)	rs2544551595
NM_013245.3(VPS4A):c.608G>A (p.Gly203Glu)	rs1965484288
NM_013245.3(VPS4A):c.616G>A (p.Glu206Lys)	rs1965484443
NM_013245.3(VPS4A):c.83C>T (p.Ala28Val)	rs1965431981
NM_013245.3(VPS4A):c.850A>G (p.Arg284Gly)	rs1965499910
NM_013245.3(VPS4A):c.850A>T (p.Arg284Trp)	rs1965499910
NM_013245.3(VPS4A):c.944C>T (p.Thr315Met)	rs1443596563

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