List of variants reported as pathogenic for Microcephaly 5, primary, autosomal recessive by 3billion

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter)	rs199422185	0.00004
NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter)	rs199422195	0.00001
NM_018136.5(ASPM):c.2760+1G>A	rs2125107452
NM_018136.5(ASPM):c.3527C>G (p.Ser1176Ter)	rs199422157
NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter)	rs137852995
NM_018136.5(ASPM):c.7761T>G (p.Tyr2587Ter)	rs189678019
NM_018136.5(ASPM):c.9091C>T (p.Arg3031Ter)	rs587783287
NM_018136.5(ASPM):c.9492T>G (p.Tyr3164Ter)	rs143931757
NM_018136.5(ASPM):c.9641T>A (p.Leu3214Ter)	rs368682161

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