List of variants in gene AMPD2 reported as pathogenic for central nervous system malformation

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)	rs587777395	0.00001
NM_001368809.2(AMPD2):c.-43_-24dup
NM_001368809.2(AMPD2):c.2094C>G (p.Tyr698Ter)	rs875989844
NM_001368809.2(AMPD2):c.2165T>G (p.Leu722Arg)	rs1553230375
NM_001368809.2(AMPD2):c.2172G>C (p.Glu724Asp)	rs587777392
NM_001368809.2(AMPD2):c.2215G>T (p.Asp739Tyr)	rs587777394
NM_001368809.2(AMPD2):c.247G>T (p.Glu83Ter)	rs2101154713
NM_001368809.2(AMPD2):c.319C>T (p.Gln107Ter)
NM_001368809.2(AMPD2):c.333del (p.Gln112fs)	rs1650621772
NM_001368809.2(AMPD2):c.646del (p.Leu216fs)
NM_001368809.2(AMPD2):c.885C>A (p.Tyr295Ter)	rs587777393
NM_001368809.2(AMPD2):c.895C>T (p.Gln299Ter)	rs1329101309

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