List of variants in gene ARFGEF2 reported as benign for Periventricular heterotopia with microcephaly, autosomal recessive

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_006420.3(ARFGEF2):c.3663T>C (p.Gly1221=)	rs2295580	0.38170
NM_006420.3(ARFGEF2):c.*2602A>G	rs707534	0.36873
NM_006420.3(ARFGEF2):c.*1756G>A	rs6019602	0.36859
NM_006420.3(ARFGEF2):c.*2518A>G	rs707533	0.36388
NM_006420.3(ARFGEF2):c.3433-53G>A	rs4810910	0.31864
NM_006420.3(ARFGEF2):c.1060-42T>C	rs3764683	0.31678
NM_006420.3(ARFGEF2):c.4180-63A>G	rs1473718	0.23772
NM_006420.3(ARFGEF2):c.2277-16G>A	rs4810905	0.23578
NM_006420.3(ARFGEF2):c.3222-65G>A	rs3764681	0.23483
NM_006420.3(ARFGEF2):c.4131C>T (p.Ile1377=)	rs2281582	0.13125
NM_006420.3(ARFGEF2):c.*494G>A	rs55874131	0.04885
NM_006420.3(ARFGEF2):c.*237A>G	rs3752257	0.01186
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys)	rs28937880	0.00079

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