List of variants in gene AMPD2 reported as benign 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001368809.2(AMPD2):c.860+19A>G	rs524998	0.73896
NM_001368809.2(AMPD2):c.91+180C>G	rs186745159	0.09427
NM_001368809.2(AMPD2):c.-263+18T>C	rs28362580	0.09386
NM_001368809.2(AMPD2):c.1984-19C>T	rs75276578	0.02404
NM_001368809.2(AMPD2):c.223-4C>T	rs116223306	0.00736
NM_001368809.2(AMPD2):c.1716C>T (p.Ser572=)	rs116415979	0.00302
NM_001368809.2(AMPD2):c.708T>G (p.Pro236=)	rs114624650	0.00189
NM_001368809.2(AMPD2):c.1984-15C>G	rs368592941	0.00168
NM_001368809.2(AMPD2):c.855C>T (p.Asp285=)	rs114463063	0.00101
NM_001368809.2(AMPD2):c.532-18G>A	rs41314005	0.00032
NM_001368809.2(AMPD2):c.1846T>C (p.Leu616=)	rs757521991	0.00021
NM_001368809.2(AMPD2):c.912C>T (p.Asp304=)	rs141396033	0.00015
NM_001368809.2(AMPD2):c.2158-9C>A	rs756915998	0.00006
NM_001368809.2(AMPD2):c.-52C>G	rs570541266	0.00003
NM_001368809.2(AMPD2):c.1863-3dup
NM_001368809.2(AMPD2):c.2475A>G (p.Gln825=)	rs553448801

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